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720980004: Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder)


Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3322761016 Shokeir syndrome en Synonym Active Case sensitive SNOMED CT core
3330983011 Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3331041011 Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome en Synonym Active Case insensitive SNOMED CT core
3332246010 Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome en Synonym Active Case insensitive SNOMED CT core
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 Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome Associated morphology Congenital absence false Inferred relationship Some 2
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome Occurrence Congenital true Inferred relationship Some 2
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome Is a Congenital anomaly of mouth false Inferred relationship Some
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome Is a Congenital anomaly of digestive organ true Inferred relationship Some
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome Occurrence Congenital true Inferred relationship Some 1
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome Is a Congenital anomaly of jaw true Inferred relationship Some
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome Finding site Hair structure true Inferred relationship Some 2
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome Finding site Periodontal tissues structure true Inferred relationship Some 1
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome Associated morphology Inflammation false Inferred relationship Some 1
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome Is a Congenital abnormality of oral cavity true Inferred relationship Some
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome Associated morphology Inflammatory morphology true Inferred relationship Some 1
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome Associated morphology Absence true Inferred relationship Some 2
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome Is a Developmental anomaly of periodontal tissue true Inferred relationship Some
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome Is a Hereditary disorder of immune system true Inferred relationship Some
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome Finding site Hair structure true Inferred relationship Some 3
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome Associated morphology Absence true Inferred relationship Some 3
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome Pathological process Autoimmune process true Inferred relationship Some 3
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome Is a Congenital alopecia true Inferred relationship Some
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome Is a Alopecia universalis true Inferred relationship Some
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome Is a Hereditary disorder of the integument true Inferred relationship Some
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome Is a Periodontitis co-occurrent with genetic disorder true Inferred relationship Some
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome Finding site Skin structure false Inferred relationship Some
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome Occurrence Congenital false Inferred relationship Some 4
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome Occurrence Congenital false Inferred relationship Some 5
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome Associated morphology Congenital absence false Inferred relationship Some 4
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome Finding site Hair structure false Inferred relationship Some 4
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome Associated morphology Inflammation false Inferred relationship Some 5
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome Finding site Periodontal tissues structure false Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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