ORPHA:281222

Autosomal ichthyosis syndrome with prominent hair abnormalities

Type: Category
Group: Group of disorders
Status: active

This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Autosomal ichthyosis syndrome with prominent hair abnormalities
fr	Ichtyose syndromique autosomique avec anomalie des cheveux prédominante
de	Ichthyose-Syndrom, autosmales, mit prominenten Haaranomalitäten
es	Síndrome de ictiosis autosómica con anomalías del cabello predominantes
it	Ittiosi sindromica autosomica con anomalie prominenti dei capelli
nl	Autosomaal ichthyosis-syndroom met opvallende haarafwijkingen
pt	Síndrome ictiose autossómica com anomalias prominentes do cabelo
pl	Autosomalny zespół rybiej łuski ze znacznymi nieprawidłowościami włosów
cs	Autozomálně dědičné syndromy s ichtyózou a dominujícími abnormalitami vlasů
uk	Синдром аутосомного іхтіозу з вираженими аномаліями волосся
zh	伴有明显毛发异常的常染色体遗传鱼鳞病综合征
tr	Belirgin kıl anormallikleri ile seyreden otozomal iktiyoz sendromu

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
MONDO	17271	E		validated
UMLS	C5681027	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:89826Rare skin disease

Parents in the classifications (1):

ORPHA:281217Autosomal ichthyosis syndrome
rare genetic diseases; rare skin diseases

Children (4):

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/281222
This record as JSON: /data/d/281222.json