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716088000: Follicular hamartoma with alopecia and cystic fibrosis 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
3304685012 Follicular hamartoma with alopecia and cystic fibrosis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3304686013 Follicular hamartoma with alopecia and cystic fibrosis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3304685012 Follicular hamartoma with alopecia and cystic fibrosis syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3304685012 Follicular hamartoma with alopecia and cystic fibrosis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3304686013 Follicular hamartoma with alopecia and cystic fibrosis syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3304686013 Follicular hamartoma with alopecia and cystic fibrosis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3304687016 A very rare disorder reported in three children of consanguineous parents with manifestation of follicular hamartoma, senile facies, partial alopecia, and hypohidrosis, severely delayed growth, skin hyperelasticity and cystic fibrosis. There have been no further descriptions in the literature since 1995. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5476941000241115 syndrome d'hamartome folliculaire avec alopécie et mucoviscidose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5476941000241115 syndrome d'hamartome folliculaire avec alopécie et mucoviscidose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Follicular hamartoma with alopecia and cystic fibrosis syndrome (disorder) Is a Alopecia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Follicular hamartoma with alopecia and cystic fibrosis syndrome (disorder) Is a Cystic fibrosis true Inferred relationship Existential restriction modifier (core metadata concept)
Follicular hamartoma with alopecia and cystic fibrosis syndrome (disorder) Is a Hair follicle finding false Inferred relationship Existential restriction modifier (core metadata concept)
Follicular hamartoma with alopecia and cystic fibrosis syndrome (disorder) Is a Hamartoma of skin (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Follicular hamartoma with alopecia and cystic fibrosis syndrome (disorder) Is a Hamartoma of pilosebaceous apparatus true Inferred relationship Existential restriction modifier (core metadata concept)
Follicular hamartoma with alopecia and cystic fibrosis syndrome (disorder) Associated morphology Absence (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Follicular hamartoma with alopecia and cystic fibrosis syndrome (disorder) Finding site Hair structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Follicular hamartoma with alopecia and cystic fibrosis syndrome (disorder) Associated morphology Hamartoma true Inferred relationship Existential restriction modifier (core metadata concept) 3
Follicular hamartoma with alopecia and cystic fibrosis syndrome (disorder) Finding site Hair follicle structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Follicular hamartoma with alopecia and cystic fibrosis syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Follicular hamartoma with alopecia and cystic fibrosis syndrome (disorder) Interprets Mucociliary clearance true Inferred relationship Existential restriction modifier (core metadata concept) 1
Follicular hamartoma with alopecia and cystic fibrosis syndrome (disorder) Associated morphology Defect false Inferred relationship Existential restriction modifier (core metadata concept) 4
Follicular hamartoma with alopecia and cystic fibrosis syndrome (disorder) Finding site Respiratory tract structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Follicular hamartoma with alopecia and cystic fibrosis syndrome (disorder) Is a Hair follicle disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Follicular hamartoma with alopecia and cystic fibrosis syndrome (disorder) Is a Hereditary disorder of the integument (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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