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789157007: Focal facial dermal dysplasia type I (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3787366016 Focal facial dermal dysplasia type I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3787367013 Brauer syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3787368015 Focal facial dermal dysplasia type I (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3787369011 Focal facial dermal dysplasia 1 Brauer type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3787370012 Bitemporal aplasia cutis congenita en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3787374015 FFDD type 1 - focal facial dermal dysplasia type 1 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3787373014 Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia with characteristics of congenital bitemporal cutis aplasia. The bitemporal rarely unilateral hypoplastic scar-like lesions in FFDD, resembling forceps marks, are usually the only manifestations of FFDD1. Most patients usually have normal intelligence. Transmitted in an autosomal dominant manner with full penetrance. 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
Focal facial dermal dysplasia type I survenue (attribut) congénital true Inferred relationship Some 1
Focal facial dermal dysplasia type I est un(e) (attribut) Focal facial dermal dysplasia (disorder) true Inferred relationship Some
Focal facial dermal dysplasia type I est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Focal facial dermal dysplasia type I survenue (attribut) congénital true Inferred relationship Some 2
Focal facial dermal dysplasia type I est un(e) (attribut) Hereditary disorder of the integument true Inferred relationship Some
Focal facial dermal dysplasia type I localisation d'une constatation (attribut) Ectoderm structure true Inferred relationship Some 1
Focal facial dermal dysplasia type I Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Focal facial dermal dysplasia type I Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Focal facial dermal dysplasia type I localisation d'une constatation (attribut) structure de la peau true Inferred relationship Some 2
Focal facial dermal dysplasia type I morphologie associée (attribut) dysplasie true Inferred relationship Some 1
Focal facial dermal dysplasia type I morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Focal facial dermal dysplasia type I est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

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