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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 (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

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 (core metadata concept) SNOMED CT core
3331762018 Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331763011 Martsolf syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402900019 This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402901015 This syndrome is characterised by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. 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
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) Is a Hypogonadotropic hypogonadism false Inferred relationship Some
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) Is a Congenital cataract true Inferred relationship Some
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) Is a Multiple system malformation syndrome false Inferred relationship Some
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) Is a Mental retardation false Inferred relationship Some
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Some
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) Is a Hereditary disorder of nervous system false Inferred relationship Some
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) Is a Reproductive system hereditary disorder false Inferred relationship Some
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) false Inferred relationship Some
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) Finding site Structure of pars distalis of pituitary (body structure) false Inferred relationship Some
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) Finding site Gonadal endocrine structure false Inferred relationship Some
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) Associated morphology Congenital cataract false Inferred relationship Some 3
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) Finding site Lens clear false Inferred relationship Some 3
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) Is a Congenital hypogonadotropic hypogonadism (disorder) true Inferred relationship Some
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) Finding site Structure of pars distalis of pituitary (body structure) false Inferred relationship Some 2
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) Finding site Structure of pars distalis of pituitary (body structure) false Inferred relationship Some 1
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) Finding site Gonadal endocrine structure true Inferred relationship Some 2
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) Is a Intellectual disability false Inferred relationship Some
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) Finding site Lens clear true Inferred relationship Some 1
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) Finding site Gonadal endocrine structure false Inferred relationship Some 3
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) Associated morphology Cataract false Inferred relationship Some 1
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) Associated morphology Opacity true Inferred relationship Some 1
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) Finding site Structure of pars distalis of pituitary (body structure) true Inferred relationship Some 3
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) Is a Congenital malformation of anterior pituitary true Inferred relationship Some
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) Is a Congenital anomaly of endocrine gonad (disorder) true Inferred relationship Some
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) Is a RAB18, member RAS oncogene family deficiency (disorder) true Inferred relationship Some
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Some 4
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 4
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) Interprets Adaptation behavior (observable entity) true Inferred relationship Some 5
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 5
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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