anophthalmia with pulmonary hypoplasia

Preferred Label : anophthalmia with pulmonary hypoplasia;

CISMeF synonym : Anophthalmia/Microphthalmia and pulmonary hypoplasia;

CISMeF acronym : MCOPS9;

MeSH synonym : Matthew-Wood syndrome; pulmonary agenesis, microphthalmia, and diaphragmatic defect; matthew wood syndrome; MCOPS9; spear syndrome; anophthalmia, clinical, with mild facial dysmorphism and variable malformations of the lung, heart, and diaphragm; microphthalmia, syndromic 9; Anophthalmia-Microphthalmia And Pulmonary Hypoplasia;

Détails

Origin ID

C537768;

UMLS CUI

C1832661;

Automatic exact mappings (from CISMeF team)
- Anophthalmia - pulmonary hypoplasia [ICD-11 More detail]
- STRA6 wt Allele [NCIt concept]
CISMeF manual mappings
- Matthew Wood syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Matthew-Wood syndrome [ORDO Disease]
- Microphthalmia, syndromic 9 [OMIM Phenotype]
- syndromic microphthalmia 9 [DO Concept]
DO Cross reference
- syndromic microphthalmia 9 [DO Concept]
MeSH term(s) associated for indexing
- anophthalmos [MeSH Descriptor]
- lung diseases [MeSH Descriptor]
- microphthalmos [MeSH Descriptor]
Record concept(s)
- Anophthalmia with pulmonary hypoplasia [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Matthew Wood syndrome (disorder) [SNOMED CT concept]
- Matthew-Wood syndrome [ORDO Disease]
- Microphthalmia, syndromic 9 [OMIM Phenotype]
- syndromic microphthalmia 9 [DO Concept]

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