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721842008: Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder)


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3326226012 Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome en Synonym Active Case insensitive SNOMED CT core
3326227015 Salti Salem syndrome en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


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

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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