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721878003: Microphthalmia with brain and digit anomaly (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
3326417011 Microphthalmia with brain and digit anomaly (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3326421016 Microphthalmia with brain and digit anomaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3326422011 Bakrania Ragge syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3326423018 Syndromic microphthalmia type 6 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3326424012 This syndrome has characteristics of anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development. 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
Microphthalmia with brain and digit anomaly (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Microphthalmia with brain and digit anomaly (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Microphthalmia with brain and digit anomaly (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Microphthalmia with brain and digit anomaly (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Microphthalmia with brain and digit anomaly (disorder) est un(e) (attribut) Congenital anomaly of eye true Inferred relationship Some
Microphthalmia with brain and digit anomaly (disorder) est un(e) (attribut) Hereditary disorder of the visual system true Inferred relationship Some
Microphthalmia with brain and digit anomaly (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 1
Microphthalmia with brain and digit anomaly (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Microphthalmia with brain and digit anomaly (disorder) localisation d'une constatation (attribut) Structure of eye proper (body structure) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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