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722380003: Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3331761013 Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3331762018 Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3331763011 Martsolf syndrome en Synonym Active Entire term case sensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome Is a Hypogonadotropic hypogonadism false Inferred relationship Existential restriction modifier
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome Is a Congenital cataract true Inferred relationship Existential restriction modifier
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome Is a Multiple system malformation syndrome false Inferred relationship Existential restriction modifier
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome Is a Autosomal recessive hereditary disorder false Inferred relationship Existential restriction modifier
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome Is a Mental retardation false Inferred relationship Existential restriction modifier
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome Is a Hereditary disorder of endocrine system true Inferred relationship Existential restriction modifier
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome Is a Hereditary disorder of nervous system false Inferred relationship Existential restriction modifier
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome Is a Reproductive system hereditary disorder false Inferred relationship Existential restriction modifier
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome Is a Hereditary disorder of the visual system false Inferred relationship Existential restriction modifier
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome Finding site Structure of pars distalis of pituitary false Inferred relationship Existential restriction modifier
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome Finding site Gonadal endocrine structure false Inferred relationship Existential restriction modifier
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome Associated morphology Congenital cataract false Inferred relationship Existential restriction modifier 3
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 3
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome Finding site Structure of lens of eye false Inferred relationship Existential restriction modifier 3
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome Is a Congenital hypogonadotropic hypogonadism true Inferred relationship Existential restriction modifier
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome Finding site Structure of pars distalis of pituitary false Inferred relationship Existential restriction modifier 2
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome Finding site Structure of pars distalis of pituitary false Inferred relationship Existential restriction modifier 1
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome Finding site Gonadal endocrine structure true Inferred relationship Existential restriction modifier 2
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome Is a Intellectual disability false Inferred relationship Existential restriction modifier
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 3
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome Finding site Structure of lens of eye true Inferred relationship Existential restriction modifier 1
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome Finding site Gonadal endocrine structure false Inferred relationship Existential restriction modifier 3
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome Associated morphology Cataract false Inferred relationship Existential restriction modifier 1
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome Associated morphology Abnormally opaque structure true Inferred relationship Existential restriction modifier 1
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome Finding site Structure of pars distalis of pituitary true Inferred relationship Existential restriction modifier 3
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 3
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome Is a Congenital malformation of anterior pituitary true Inferred relationship Existential restriction modifier
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome Is a Congenital anomaly of endocrine gonad true Inferred relationship Existential restriction modifier
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome Is a RAB18, member RAS oncogene family deficiency true Inferred relationship Existential restriction modifier
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 2
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome Interprets Intellectual ability true Inferred relationship Existential restriction modifier 4
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 4
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier 5
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 5

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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