ORPHA:93446

Primary bone dysplasia with decreased bone density

Synonyms: Primary osteodysplasia with decreased bone density · Primary skeletal dysplasia with decreased bone density

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	Primary bone dysplasia with decreased bone density	Primary osteodysplasia with decreased bone density · Primary skeletal dysplasia with decreased bone density
fr	Dysplasie osseuse primaire avec hypodensité osseuse	Dysplasie squelettique primaire avec hypodensité osseuse · Ostéodysplasie primaire avec hypodensité osseuse
de	Primäre Knochendysplasie mit erniedrigter Knochendichte	Primäre Osteodysplasie mit erniedrigter Knochendichte · Primäre Skelettdysplasie mit erniedrigter Knochendichte
es	Displasia ósea primaria con disminución de la densidad ósea	Displasia esquelética primaria con disminución de la densidad ósea · Osteodisplasia primaria con disminución de la densidad ósea
it	Displasia ossea primitiva con diminuzione della densità ossea	Displasia scheletrica primitiva con diminuzione della densità ossea · Osteodisplasia primitiva con diminuzione della densità ossea
nl	Primaire botdysplasie met verminderde botdichtheid	Primaire osteodysplasie met verminderde botdichtheid · Primaire skeletdysplasie met verminderde botdichtheid
pt	Doença óssea com diminuição da densidade óssea
pl	Choroba kości ze zmniejszoną gęstością	= en
cs	Primární kostní dysplázie se sníženou kostní denzitou	Primární osteodysplázie se sníženou kostní denzitou · Primární skeletální dysplázie se sníženou kostní denzitou
uk	Первинна дисплазія кісток зі зниженою щільністю кісткової тканини	Первинна остеодисплазія зі зниженою щільністю кісткової тканини · Первинна скелетна дисплазія зі зниженою щільністю кісткової тканини
zh	原发性骨发育不良伴骨密度降低	原发性骨发育不良伴骨密度降低
tr	Azalmış kemik yoğunluğu ile seyreden primer kemik displazisi	Azalmış kemik yoğunluğu ile seyreden primer osteodisplazi · Azalmış kemik yoğunluğu ile seyreden primer iskelet displazisi

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
UMLS	C5680273	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:93419Rare bone disease

Parents in the classifications (1):

ORPHA:364526Primary bone dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases

Children (25):

Codes that Orphanet moved or referred to this one:

ORPHA:1800OBSOLETE: Craniofaciocervical osteoglyphic dysplasia referred to · inactive
ORPHA:2787OBSOLETE: Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome referred to · inactive
ORPHA:3331OBSOLETE: Bowed tibiae-radial anomalies-osteopenia-fractures syndrome referred to · inactive

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/93446
This record as JSON: /data/d/93446.json