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716194005: Pili torti with developmental delay and neurological abnormality syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3305043018 Pili torti with developmental delay and neurological abnormality syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3305044012 Pili torti with developmental delay and neurological abnormality syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3305045013 This syndrome has characteristics of growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents. 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
Pili torti with developmental delay and neurological abnormality syndrome (disorder) morphologie associée (attribut) Tortuosity true Inferred relationship Some 1
Pili torti with developmental delay and neurological abnormality syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Pili torti with developmental delay and neurological abnormality syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Pili torti with developmental delay and neurological abnormality syndrome (disorder) localisation d'une constatation (attribut) Hair structure (body structure) true Inferred relationship Some 1
Pili torti with developmental delay and neurological abnormality syndrome (disorder) localisation d'une constatation (attribut) Hair shaft structure true Inferred relationship Some 2
Pili torti with developmental delay and neurological abnormality syndrome (disorder) morphologie associée (attribut) Flattening deformity true Inferred relationship Some 2
Pili torti with developmental delay and neurological abnormality syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Pili torti with developmental delay and neurological abnormality syndrome (disorder) est un(e) (attribut) pili torti true Inferred relationship Some
Pili torti with developmental delay and neurological abnormality syndrome (disorder) est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Pili torti with developmental delay and neurological abnormality syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 2
Pili torti with developmental delay and neurological abnormality syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Pili torti with developmental delay and neurological abnormality syndrome (disorder) localisation d'une constatation (attribut) Hair structure (body structure) false Inferred relationship Some 2
Pili torti with developmental delay and neurological abnormality syndrome (disorder) morphologie associée (attribut) Tortuosity false Inferred relationship Some 3
Pili torti with developmental delay and neurological abnormality syndrome (disorder) localisation d'une constatation (attribut) Hair structure (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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