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722458000: Matthew Wood syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3332221010 Anophthalmia with pulmonary hypoplasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3332222015 Matthew Wood syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3332223013 Syndromic microphthalmia type 9 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3332225018 Matthew Wood syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3332224019 A rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia. Only five cases have been reported so far, two of who were siblings. In the three nonfamilial cases, unilateral pulmonary agenesis and microphthalmia were associated with diaphragmatic hernia and pulmonary vessel agenesis. It has been suggested that two different entities can be distinguished: on one hand, the association of anophthalmia-pulmonary hypoplasia with/without anomalies of the face, heart, spleen and uterus, which may be due to a putative autosomal recessive gene with pleiotropic effects; on the other hand, a sporadic association including pulmonary hypoplasia, anophthalmia, unilateral diaphragmatic defect and agenesis of the pulmonary trunk, which may represent the expression of a developmental field defect. There is evidence that syndromic microphthalmia- is caused by homozygous or compound heterozygous mutation in the STRA6 gene on chromosome 15q24. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Matthew Wood syndrome morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Matthew Wood syndrome morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Matthew Wood syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Matthew Wood syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Matthew Wood syndrome localisation d'une constatation (attribut) Structure of eye proper (body structure) true Inferred relationship Some 1
Matthew Wood syndrome survenue (attribut) congénital true Inferred relationship Some 1
Matthew Wood syndrome est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Matthew Wood syndrome est un(e) (attribut) Autosomal hereditary disorder true Inferred relationship Some
Matthew Wood syndrome est un(e) (attribut) Congenital anomaly of eye true Inferred relationship Some
Matthew Wood syndrome est un(e) (attribut) anomalie congénitale du poumon true Inferred relationship Some
Matthew Wood syndrome est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Matthew Wood syndrome est un(e) (attribut) Hereditary disorder of the visual system true Inferred relationship Some
Matthew Wood syndrome morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 2
Matthew Wood syndrome survenue (attribut) congénital true Inferred relationship Some 2
Matthew Wood syndrome morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 3
Matthew Wood syndrome survenue (attribut) congénital false Inferred relationship Some 3
Matthew Wood syndrome localisation d'une constatation (attribut) structure d'un poumon true Inferred relationship Some 2
Matthew Wood syndrome localisation d'une constatation (attribut) Structure of eye proper (body structure) false Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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