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718633009: acrale zelfhelende collodionbaby (aandoening)


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
3313010012 Acral self-healing collodion baby (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3313013014 Acral self-healing collodion baby en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
6185181000146111 acrale zelfhelende collodionbaby nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6185201000146110 acrale zelfhelende collodionbaby (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6185211000146112 acral self-healing collodion baby nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6641021000146119 acrale SHCB nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3313014015 A variant of self-healing collodion baby with manifestation of the presence at birth of a collodion membrane only at the extremities. Only 2 cases were described in the literature. In both cases, the babies healed soon after birth. In one case, molecular analysis was performed that revealed mutations in the TGM1 gene encoding transglutaminase 1, an enzyme involved in the cornification of the stratum corneum. 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
Acral self-healing collodion baby (disorder) Is a Self-healing collodion baby (disorder) true Inferred relationship Some
Acral self-healing collodion baby (disorder) Occurrence Infancy false Inferred relationship Some
Acral self-healing collodion baby (disorder) Occurrence foetale of neonatale periode false Inferred relationship Some
Acral self-healing collodion baby (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 4
Acral self-healing collodion baby (disorder) Occurrence Congenital false Inferred relationship Some 4
Acral self-healing collodion baby (disorder) Finding site Skin structure false Inferred relationship Some 4
Acral self-healing collodion baby (disorder) Associated morphology Hyperkeratosis false Inferred relationship Some 5
Acral self-healing collodion baby (disorder) Finding site Skin structure false Inferred relationship Some 5
Acral self-healing collodion baby (disorder) Occurrence Congenital true Inferred relationship Some 1
Acral self-healing collodion baby (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Acral self-healing collodion baby (disorder) Finding site Skin structure false Inferred relationship Some 1
Acral self-healing collodion baby (disorder) Associated morphology Proliferative hyperkeratosis true Inferred relationship Some 1
Acral self-healing collodion baby (disorder) Has interpretation Abnormal true Inferred relationship Some 2
Acral self-healing collodion baby (disorder) Interprets Keratinization true Inferred relationship Some 2
Acral self-healing collodion baby (disorder) Finding site Entire skin 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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