ORPHA:100049

Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies

Synonyms: Primary ILD specific to childhood due to pulmonary surfactant protein anomalies

Type: Category
Group: Group of disorders
Status: active

A group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies	Primary ILD specific to childhood due to pulmonary surfactant protein anomalies
fr	Pneumopathie interstitielle primaire spécifique de l'enfance due à une anomalie des protéines du surfactant pulmonaire	ILD primaire spécifique de l'enfance due à une anomalie des protéines du surfactant pulmonaire
de	Primäre interstitielle Lungenerkrankung des Kindesalters durch pulmonale Surfactant-Protein-Anomalie
es	Enfermedad pulmonar intersticial primaria específica de la infancia por anomalías de las proteinas surfactantes pulmonares	ILD primaria específica de la infancia por anomalías de las proteinas surfactantes pulmonares
it	Pneumopatia interstiziale primitiva specifica dell'infanzia da anomalie delle proteine del surfattante polmonare	ILD primitiva specifica dell'infanzia da anomalie delle proteine del surfattante polmonare
nl	Primaire interstitiële longziekte specifiek voor de kinderjaren door pulmonale surfactanteiwitanomalieën	Primaire ILD-specifiek voor de kinderjaren door pulmonale surfactanteiwitanomalieën
pt	Anomalias das proteínas surfactantes pulmonares
pl	Pierwotna dziecięca choroba śródmiąższowa płuc spowodowana anomaliami białek surfaktantu	Pierwotna dziecięca ILD spowodowana anomaliami białek surfaktantu
cs	Primární dětská intersticiální plicní choroba způsobená anomálií proteinových komponent plicního surfaktantu	Primární ILD vyskytující se v dětství způsobená anomálií proteinových komponent plicního surfaktantu
uk	Первинне інтерстиціальне захворювання легень, специфічне для дитячого віку, зумовлене аномаліями білків легеневого сурфактанта	Первинна ILD, специфічна для дитячого віку, зумовлена аномаліями білків легеневого сурфактанта
zh	肺表面活性物质蛋白异常所致儿童特发的原发性间质性肺疾病	肺表面活性物质蛋白异常所致儿童特发原发性ILD
tr	Pulmoner sürfaktan protein anomalilerine bağlı çocukluk çağı primer interstisyel akciğer hastalığı	Pulmoner sürfaktan protein anomalilerine bağlı olarak çocukluk dönemi primer İAH

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
MONDO	15052	E		validated
UMLS	C5680383	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:97955Rare respiratory disease

Parents in the classifications (2):

ORPHA:264992Genetic interstitial lung disease
rare genetic diseases
ORPHA:264670Primary interstitial lung disease specific to childhood due to alveolar structure disorder
rare respiratory diseases; rare transplant-related disorders

Children (6):

Genes

0 direct

Orphanet records no gene directly on this code.

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/100049
This record as JSON: /data/d/100049.json