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720345008: syndroom van ernstige T-cel-immunodeficiëntie, congenitale alopecie en nageldystrofie (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
3322827014 Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3322828016 Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3322829012 Alymphoid cystic thymic dysgenesis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3322830019 Winged helix deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3322831015 Pignata Guarino syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3541031015 T-cell immunodeficiency, congenital alopecia, and nail dystrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3541032010 Congenital alopecia and nail dystrophy with severe functional T-cell immunodeficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
6258911000146119 alymfoïde cysteuze thymusdysgenesie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6258931000146114 'winged helix'-deficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6258941000146118 FOXN1-deficiëntie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6886561000146113 syndroom van ernstige T-cel-immunodeficiëntie, congenitale alopecie en nageldystrofie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6886571000146119 syndroom van ernstige T-cel-immunodeficiëntie, congenitale alopecie en nageldystrofie (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3326800013 A rare type of severe combined immunodeficiency (SCID) with missing functional T-cells. The disease affects growth of the hair and nails. Affected individuals have no scalp hair, eyebrows, or eyelashes and the nails are often ridged, pitted, or abnormally curved. The disease results from mutations in the FOXN1 gene which prevents cells from making any functional FOXN1 protein. 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
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) Is a Congenital alopecia true Inferred relationship Some
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) Is a Congenital anomaly of nail true Inferred relationship Some
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) Is a Autosomal recessive severe combined immunodeficiency disease (disorder) true Inferred relationship Some
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) Is a Hereditary disorder of the integument true Inferred relationship Some
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) Has definitional manifestation Immune system finding false Inferred relationship Some
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 4
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) Finding site structuur van unguis (lichaamsstructuur) false Inferred relationship Some 4
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 5
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) Finding site Hair structure (body structure) false Inferred relationship Some 5
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 1
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) Finding site Hair structure (body structure) true Inferred relationship Some 1
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 3
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) Finding site Nail unit structure true Inferred relationship Some 2
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) Is a Disorder of nail (disorder) false Inferred relationship Some
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) Is a Genetic disorder of nail (disorder) true Inferred relationship Some
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) Associated morphology Absence (morphologic abnormality) 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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