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

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
3331761013 Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
3331764017 Syndrome with the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Less than 20 cases have been described in the literature so far. Besides the three main features of the syndrome, other anomalies have been reported in some of the affected patients including short stature, minor digital abnormalities, microcephaly, cardiomyopathy, heart failure, and mild facial dysmorphism (micrognathia, maxilla hypoplasia, low posterior hairline and large ears). Mutations in the RAB3GAP2 gene have been identified in some patients. Transmission is autosomal recessive. en Definition 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
602111000274110 Martsolf-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3411531001000115 Katarakt-Intelligenzminderung-Hypogonadismus-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5966201000241116 syndrome de Martsolf fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5966211000241119 syndrome de cataracte congénitale, déficience intellectuelle et hypogonadisme hypogonadotrope fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5966201000241116 syndrome de Martsolf fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5966211000241119 syndrome de cataracte congénitale, déficience intellectuelle et hypogonadisme hypogonadotrope fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
602111000274110 Martsolf-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3411531001000115 Katarakt-Intelligenzminderung-Hypogonadismus-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
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Is a Hypogonadotropic hypogonadism false Inferred relationship Existential restriction modifier (core metadata concept)
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Is a Congenital cataract true Inferred relationship Existential restriction modifier (core metadata concept)
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Is a Multiple system malformation syndrome false Inferred relationship Existential restriction modifier (core metadata concept)
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Is a Autosomal recessive hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Is a retard mental false Inferred relationship Existential restriction modifier (core metadata concept)
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Is a Hereditary disorder of nervous system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Is a Reproductive system hereditary disorder (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Is a Hereditary disorder of the visual system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Finding site Structure of distal part of pituitary false Inferred relationship Existential restriction modifier (core metadata concept)
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Finding site Gonadal endocrine structure false Inferred relationship Existential restriction modifier (core metadata concept)
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Associated morphology Congenital cataract false Inferred relationship Existential restriction modifier (core metadata concept) 3
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Finding site Structure of lens of eye (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Is a Congenital hypogonadotropic hypogonadism (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Finding site Structure of distal part of pituitary false Inferred relationship Existential restriction modifier (core metadata concept) 2
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Finding site Structure of distal part of pituitary false Inferred relationship Existential restriction modifier (core metadata concept) 1
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Finding site Gonadal endocrine structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Is a Intelligenzminderung false Inferred relationship Existential restriction modifier (core metadata concept)
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Finding site Structure of lens of eye (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Finding site Gonadal endocrine structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Associated morphology Cataract false Inferred relationship Existential restriction modifier (core metadata concept) 1
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Associated morphology Opacity true Inferred relationship Existential restriction modifier (core metadata concept) 1
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Finding site Structure of distal part of pituitary true Inferred relationship Existential restriction modifier (core metadata concept) 3
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Is a Congenital malformation of anterior pituitary true Inferred relationship Existential restriction modifier (core metadata concept)
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Is a Congenital anomaly of endocrine gonad (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Is a RAB18 deficiency true Inferred relationship Existential restriction modifier (core metadata concept)
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 4
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 5
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

Back to Start