FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

782917007: Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3756684010 Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3756685011 Familial adrenal hypoplasia with absent pituitary luteinizing hormone en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3756686012 Familial adrenal hypoplasia with absent pituitary luteinising hormone en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3756687015 Familial adrenal hypoplasia miniature type en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3756688013 A rare endocrine disease characterized by a miniature adult type of congenital adrenal hypoplasia (residual adrenal cortex is composed of a small amount of permanent adult cortex with normal structural organization), selective absence of pituitary luteinizing hormone in otherwise normal brain and neonatal demise. Patients present with hypogonadotropic hypogonadism, hypoglycemia, seizures, encephalopathy and diabetes insipidus. There have been no further descriptions in the literature since 1988. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3756689017 A rare endocrine disease characterised by a miniature adult type of congenital adrenal hypoplasia (residual adrenal cortex is composed of a small amount of permanent adult cortex with normal structural organisation), selective absence of pituitary luteinising hormone in otherwise normal brain and neonatal demise. Patients present with hypogonadotropic hypogonadism, hypoglycaemia, seizures, encephalopathy and diabetes insipidus. There have been no further descriptions in the literature since 1988. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3756684010 Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3756685011 Familial adrenal hypoplasia with absent pituitary luteinizing hormone en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3756686012 Familial adrenal hypoplasia with absent pituitary luteinising hormone en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3756687015 Familial adrenal hypoplasia miniature type en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3756688013 A rare endocrine disease characterized by a miniature adult type of congenital adrenal hypoplasia (residual adrenal cortex is composed of a small amount of permanent adult cortex with normal structural organization), selective absence of pituitary luteinizing hormone in otherwise normal brain and neonatal demise. Patients present with hypogonadotropic hypogonadism, hypoglycemia, seizures, encephalopathy and diabetes insipidus. There have been no further descriptions in the literature since 1988. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3756689017 A rare endocrine disease characterised by a miniature adult type of congenital adrenal hypoplasia (residual adrenal cortex is composed of a small amount of permanent adult cortex with normal structural organisation), selective absence of pituitary luteinising hormone in otherwise normal brain and neonatal demise. Patients present with hypogonadotropic hypogonadism, hypoglycaemia, seizures, encephalopathy and diabetes insipidus. There have been no further descriptions in the literature since 1988. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3454691001000111 Familiäre Nebennierenhypoplasie mit fehlendem hypophysären luteinisierenden Hormon de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6237711000241117 hypoplasie surrénalienne familiale sans LH (luteinizing hormone) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6237721000241112 hypoplasie surrénalienne familiale sans hormone lutéinisante fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6237711000241117 hypoplasie surrénalienne familiale sans LH (luteinizing hormone) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6237721000241112 hypoplasie surrénalienne familiale sans hormone lutéinisante fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3454691001000111 Familiäre Nebennierenhypoplasie mit fehlendem hypophysären luteinisierenden Hormon de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) Is a Congenital hypoplasia of adrenal gland (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) Is a Familial disease true Inferred relationship Existential restriction modifier (core metadata concept)
Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) Is a Congenital hypogonadotropic hypogonadism (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) Is a Reproductive system hereditary disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) Is a Finding of hormone level (finding) false Inferred relationship Existential restriction modifier (core metadata concept)
Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) Is a Abnormal pituitary luteinizing hormone (finding) true Inferred relationship Existential restriction modifier (core metadata concept)
Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) Interprets Luteinising hormone measurement true Inferred relationship Existential restriction modifier (core metadata concept) 4
Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) Associated morphology Hypoplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) Finding site Adrenal cortex structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) Finding site Structure of distal part of pituitary true Inferred relationship Existential restriction modifier (core metadata concept) 3
Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) Has interpretation Absent true Inferred relationship Existential restriction modifier (core metadata concept) 4
Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) Finding site Gonadal endocrine structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) Interprets Endocrine observable true Inferred relationship Existential restriction modifier (core metadata concept) 5
Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) Is a Gonadotrophin level - finding true Inferred relationship Existential restriction modifier (core metadata concept)
Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) Is a Measurement procedure result absent true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start