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721842008: syndrome d'hypogonadisme hypergonadotrope-alopécie fronto-pariétale (trouble)


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
1006851000172118 syndrome de Salti-Salem fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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
757681000241112 syndrome d'hypogonadisme hypergonadotrope-alopécie fronto-pariétale (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
916941000172116 syndrome d'hypogonadisme hypergonadotrope-alopécie fronto-pariétale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
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) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) est un(e) (attribut) Congenital alopecia true Inferred relationship Some
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) est un(e) (attribut) hypogonadisme hypogonadotrope (trouble) false Inferred relationship Some
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) est un(e) (attribut) alopécie (trouble) false Inferred relationship Some
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) est un(e) (attribut) Hereditary disorder of endocrine system (disorder) true Inferred relationship Some
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) est un(e) (attribut) Hereditary disorder of the integument true Inferred relationship Some
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) est un(e) (attribut) Hereditary disorder of nervous system true Inferred relationship Some
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) est un(e) (attribut) Reproductive system hereditary disorder true Inferred relationship Some
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) localisation d'une constatation (attribut) Structure of pars distalis of pituitary (body structure) false Inferred relationship Some
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) localisation d'une constatation (attribut) Gonadal endocrine structure false Inferred relationship Some
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) morphologie associée (attribut) Absence (morphologic abnormality) false Inferred relationship Some 3
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) localisation d'une constatation (attribut) Hair structure (body structure) false Inferred relationship Some 3
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) est un(e) (attribut) Congenital hypogonadotropic hypogonadism (disorder) true Inferred relationship Some
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) morphologie associée (attribut) Absence (morphologic abnormality) true Inferred relationship Some 1
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) localisation d'une constatation (attribut) Hair structure (body structure) true Inferred relationship Some 1
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) localisation d'une constatation (attribut) Gonadal endocrine structure true Inferred relationship Some 2
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 4
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) localisation d'une constatation (attribut) Structure of pars distalis of pituitary (body structure) true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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