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721846006: Hypomyelination, hypogonadotropic hypogonadism, hypodontia 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
3324747010 Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3324748017 Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3326240013 4H syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3326241012 A syndrome with the association of demyelinating leukodystrophy and progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia. It has been diagnosed in four unrelated patients. These symptoms suggest the association of a myelination defect (of the central and peripheral nervous systems) with an endocrinal deficiency of the pituitary gland. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3326242017 A syndrome with the association of demyelinating leucodystrophy and progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia. It has been diagnosed in four unrelated patients. These symptoms suggest the association of a myelination defect (of the central and peripheral nervous systems) with an endocrinal deficiency of the pituitary gland. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3324747010 Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3324747010 Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3324748017 Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3324748017 Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3326240013 4H syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3326241012 A syndrome with the association of demyelinating leukodystrophy and progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia. It has been diagnosed in four unrelated patients. These symptoms suggest the association of a myelination defect (of the central and peripheral nervous systems) with an endocrinal deficiency of the pituitary gland. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3326242017 A syndrome with the association of demyelinating leucodystrophy and progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia. It has been diagnosed in four unrelated patients. These symptoms suggest the association of a myelination defect (of the central and peripheral nervous systems) with an endocrinal deficiency of the pituitary gland. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3385251001000118 Hypomyelinisierung-Hypogonadotroper Hypogonadismus-Hypodontie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6246291000241116 syndrome 4H fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6246301000241117 syndrome d'hypomyélinisation, hypogonadisme hypogonadotrope et hypodontie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6246291000241116 syndrome 4H fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6246301000241117 syndrome d'hypomyélinisation, hypogonadisme hypogonadotrope et hypodontie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3385251001000118 Hypomyelinisierung-Hypogonadotroper Hypogonadismus-Hypodontie-Syndrom 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
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Is a Anodontia false Inferred relationship Existential restriction modifier (core metadata concept)
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Is a Hypogonadotropic hypogonadism false Inferred relationship Existential restriction modifier (core metadata concept)
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Is a Partial congenital absence of teeth (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Is a Autosomal recessive hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Is a Leucodystrophy false Inferred relationship Existential restriction modifier (core metadata concept)
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Is a Hereditary disorder of endocrine system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Is a Reproductive system hereditary disorder (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Finding site Structure of distal part of pituitary false Inferred relationship Existential restriction modifier (core metadata concept)
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Finding site Gonadal endocrine structure false Inferred relationship Existential restriction modifier (core metadata concept)
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 5
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 5
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Finding site Entire tooth false Inferred relationship Existential restriction modifier (core metadata concept) 5
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Associated morphology Congenital abnormal number false Inferred relationship Existential restriction modifier (core metadata concept) 5
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Associated morphology Congenital abnormal number false Inferred relationship Existential restriction modifier (core metadata concept) 7
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 7
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Finding site Entire tooth false Inferred relationship Existential restriction modifier (core metadata concept) 7
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Associated morphology Dystrophy true Inferred relationship Existential restriction modifier (core metadata concept) 6
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Associated morphology Myelin sheath alteration false Inferred relationship Existential restriction modifier (core metadata concept) 6
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Finding site Nervous system structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 6
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Is a Congenital hypogonadotropic hypogonadism (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Finding site Structure of distal part of pituitary false Inferred relationship Existential restriction modifier (core metadata concept) 2
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Finding site Structure of distal part of pituitary false Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Finding site Gonadal endocrine structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Is a Hereditary disorder of nervous system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Finding site White matter structure of brain and spinal cord (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Associated morphology Myelin sheath alteration true Inferred relationship Existential restriction modifier (core metadata concept) 3
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Finding site Myelinated nerve fiber structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Finding site Entire tooth false Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Finding site Gonadal endocrine structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Is a Hereditary degenerative disease of central nervous system false Inferred relationship Existential restriction modifier (core metadata concept)
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Associated morphology Absence (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Is a absence de développement d'une dent false Inferred relationship Existential restriction modifier (core metadata concept)
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Finding site Tooth structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Finding site Tooth structure true Inferred relationship Existential restriction modifier (core metadata concept) 5
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Is a Congenital absence of jaw false Inferred relationship Existential restriction modifier (core metadata concept)
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Is a Congenital absence of mouth (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Is a 4H leucodystrophy true Inferred relationship Existential restriction modifier (core metadata concept)
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Is a Chronic disease of teeth AND/OR supporting structures (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Is a Chronic disease of genitourinary system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Is a Hereditary ataxia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Is a Chronic brain syndrome (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Is a Cerebellar ataxia true Inferred relationship Existential restriction modifier (core metadata concept)
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 4
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Finding site Cerebellar structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Finding site Gonadal endocrine structure true Inferred relationship Existential restriction modifier (core metadata concept) 7
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Finding site Structure of distal part of pituitary true Inferred relationship Existential restriction modifier (core metadata concept) 8
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Associated morphology Abnormal number (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 5

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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