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721007005: Hair defect with photosensitivity and intellectual disability syndrome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3323017014 Calderón González Cantu syndrome en Synonym Active Case sensitive SNOMED CT core
3330082015 Hair defect with photosensitivity and intellectual disability syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3330083013 Hair defect with photosensitivity and intellectual disability syndrome en Synonym Active Case insensitive SNOMED CT core
3323018016 Syndrome with the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and nonprogressive intellectual deficit, without a demonstrable metabolic aberration. It has been described in three sisters born to consanguineous parents. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hair defect with photosensitivity and intellectual disability syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Hair defect with photosensitivity and intellectual disability syndrome Finding site Hair structure true Inferred relationship Some 1
Hair defect with photosensitivity and intellectual disability syndrome Occurrence Congenital true Inferred relationship Some 1
Hair defect with photosensitivity and intellectual disability syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Hair defect with photosensitivity and intellectual disability syndrome Finding site Skin structure true Inferred relationship Some 2
Hair defect with photosensitivity and intellectual disability syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Hair defect with photosensitivity and intellectual disability syndrome Interprets Intellectual ability true Inferred relationship Some 3
Hair defect with photosensitivity and intellectual disability syndrome Has interpretation Impaired true Inferred relationship Some 3
Hair defect with photosensitivity and intellectual disability syndrome Interprets Adaptation behaviour true Inferred relationship Some 4
Hair defect with photosensitivity and intellectual disability syndrome Has interpretation Impaired true Inferred relationship Some 4
Hair defect with photosensitivity and intellectual disability syndrome Is a Congenital anomaly of hair true Inferred relationship Some
Hair defect with photosensitivity and intellectual disability syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
Hair defect with photosensitivity and intellectual disability syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Hair defect with photosensitivity and intellectual disability syndrome Is a Photosensitivity true Inferred relationship Some
Hair defect with photosensitivity and intellectual disability syndrome Is a Intellectual disability false Inferred relationship Some
Hair defect with photosensitivity and intellectual disability syndrome Is a Hereditary disorder of the integument true Inferred relationship Some
Hair defect with photosensitivity and intellectual disability syndrome Is a Disorders of skin caused by physical agents true Inferred relationship Some
Hair defect with photosensitivity and intellectual disability syndrome Causative agent Light true Inferred relationship Some 2
Hair defect with photosensitivity and intellectual disability syndrome Finding site Skin structure false Inferred relationship Some
Hair defect with photosensitivity and intellectual disability syndrome Associated morphology Developmental abnormality false Inferred relationship Some 3
Hair defect with photosensitivity and intellectual disability syndrome Occurrence Congenital false Inferred relationship Some 3
Hair defect with photosensitivity and intellectual disability syndrome Finding site Hair structure false Inferred relationship Some 3
Hair defect with photosensitivity and intellectual disability syndrome Is a Intellectual disability true Inferred relationship Some

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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