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720981000: Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (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
3322766014 Devriendt Vandenberghe Fryns syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3322769019 Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3322770018 Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5402548014 A rare multiple congenital anomalies syndrome characterized by association of congenital total alopecia, mild intellectual deficit and hypergonadotropic hypogonadism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402549018 A rare multiple congenital anomalies syndrome characterised by association of congenital total alopecia, mild intellectual deficit and hypergonadotropic hypogonadism. 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
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder) Is a Mental retardation false Inferred relationship Some
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder) Is a Total congenital alopecia false Inferred relationship Some
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder) Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Some
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder) Is a Hereditary disorder of the integument true Inferred relationship Some
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder) Is a Reproductive system hereditary disorder true Inferred relationship Some
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder) Is a Primary hypogonadism (disorder) true Inferred relationship Some
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder) Finding site Gonadal endocrine structure false Inferred relationship Some
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 3
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder) Finding site Hair structure (body structure) false Inferred relationship Some 3
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder) Finding site Gonadal endocrine structure true Inferred relationship Some 1
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder) Is a Intellectual disability true Inferred relationship Some
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder) Finding site Hair structure (body structure) true Inferred relationship Some 2
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 2
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder) Is a Congenital alopecia true Inferred relationship Some
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder) Associated morphology Absence (morphologic abnormality) true Inferred relationship Some 2
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Some 3
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 3
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder) Interprets Adaptation behavior (observable entity) true Inferred relationship Some 4
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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