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721842008: Hypogonadotropic hypogonadism with frontoparietal alopecia 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
3326225011 Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3326226012 Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3326227015 Salti Salem syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3326228013 Syndrome with the association of hypogonadotropic hypogonadism and frontoparietal alopecia. It has been described in six members (four males and two females) of a consanguineous Lebanese family. In addition to frontoparietal alopecia, the remaining scalp hair was also sparse and axillary and pubic hair was absent. Despite the family history of consanguinity, autosomal dominant inheritance with reduced penetrance was considered as the most likely mode of transmission. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3923751000052119 syndrom med hypogonadotrop hypogonadism och frontoparietal alopeci sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) Is a Hypogonadotropic hypogonadism false Inferred relationship Some
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) Is a Alopecia false Inferred relationship Some
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Some
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) Is a Hereditary disorder of the integument true Inferred relationship Some
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) Is a Hereditary disorder of nervous system true Inferred relationship Some
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) Is a Reproductive system hereditary disorder true Inferred relationship Some
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) Finding site Structure of pars distalis of pituitary (body structure) false Inferred relationship Some
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) Finding site Gonadal endocrine structure false Inferred relationship Some
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) Associated morphology Absence (morphologic abnormality) false Inferred relationship Some 3
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) Finding site Hair structure (body structure) false Inferred relationship Some 3
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) Is a Congenital hypogonadotropic hypogonadism (disorder) true Inferred relationship Some
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) Associated morphology Absence (morphologic abnormality) true Inferred relationship Some 1
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) Finding site Hair structure (body structure) true Inferred relationship Some 1
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) Finding site Gonadal endocrine structure true Inferred relationship Some 2
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 4
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) Finding site Structure of pars distalis of pituitary (body structure) true Inferred relationship Some 4
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) Is a Congenital alopecia true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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