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720980004: syndroom van alopecia, epilepsie, pyorroe en verstandelijke beperking (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
3322761016 Shokeir syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3330983011 Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331041011 Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3332246010 Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
6327181000146119 Shokeir-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6327201000146115 syndroom van Shokeir nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6687101000146112 syndroom van alopecia, epilepsie, pyorroe en intellectuele achterstand nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7494761000146116 syndroom van alopecia, epilepsie, pyorroe en verstandelijke beperking (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7568021000146112 syndroom van alopecia, epilepsie, pyorroe en mentale retardatie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7568031000146114 syndroom van alopecia, epilepsie, pyorroe en verstandelijke handicap nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7568041000146118 syndroom van alopecia, epilepsie, pyorroe en verstandelijke beperking nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3322762011 Syndrome characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontal pyorrhea. Total permanent alopecia and periodontal pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3322763018 Syndrome characterised by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontal pyorrhoea. Total permanent alopecia and periodontal pyorrhoea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant. 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, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) Is a Congenital alopecia true Inferred relationship Some
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) Is a Alopecia universalis true Inferred relationship Some
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) Is a Hereditary disorder of the integument true Inferred relationship Some
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) Is a Periodontitis co-occurrent with genetic disorder (disorder) true Inferred relationship Some
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) Finding site Skin structure false Inferred relationship Some
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 4
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) Finding site Hair structure (body structure) false Inferred relationship Some 4
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) Associated morphology ontsteking (afwijkende morfologie) false Inferred relationship Some 5
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) Finding site Periodontal tissues structure false Inferred relationship Some 5
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 2
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) Is a Congenital anomaly of mouth false Inferred relationship Some
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) Is a Congenital anomaly of digestive organ true Inferred relationship Some
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) Is a Congenital anomaly of jaw true Inferred relationship Some
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) Finding site Hair structure (body structure) true Inferred relationship Some 2
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) Finding site Periodontal tissues structure true Inferred relationship Some 1
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) Associated morphology ontsteking (afwijkende morfologie) false Inferred relationship Some 1
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) Is a Congenital abnormality of oral cavity true Inferred relationship Some
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) Associated morphology Inflammatory morphology (morphologic abnormality) true Inferred relationship Some 1
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) Associated morphology Absence (morphologic abnormality) true Inferred relationship Some 2
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) Is a Developmental anomaly of periodontal tissue true Inferred relationship Some
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) Is a Hereditary disorder of immune system true Inferred relationship Some
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) Finding site Hair structure (body structure) true Inferred relationship Some 3
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) Associated morphology Absence (morphologic abnormality) true Inferred relationship Some 3
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) Pathological process (attribute) Autoimmune process true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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