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724094005: Neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatic fibrosis, polycystic kidney syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3430597014 Neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatic fibrosis, polycystic kidney syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3430598016 Neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatic fibrosis, polycystic kidney syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403225011 A rare genetic disease characterized by intrauterine growth retardation, permanent neonatal diabetes mellitus, and congenital hypothyroidism. Additional manifestations include congenital glaucoma, hepatic disease (hepatitis, fibrosis, and cirrhosis), polycystic kidneys, exocrine pancreatic dysfunction, sensorineural hearing impairment, developmental delay, and mild facial dysmorphism (such as flat nasal bridge, epicanthal folds, long philtrum, and low-set ears), among others. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403226012 A rare genetic disease characterised by intrauterine growth retardation, permanent neonatal diabetes mellitus, and congenital hypothyroidism. Additional manifestations include congenital glaucoma, hepatic disease (hepatitis, fibrosis, and cirrhosis), polycystic kidneys, exocrine pancreatic dysfunction, sensorineural hearing impairment, developmental delay, and mild facial dysmorphism (such as flat nasal bridge, epicanthal folds, long philtrum, and low-set ears), among others. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3430597014 Neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatic fibrosis, polycystic kidney syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3430598016 Neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatic fibrosis, polycystic kidney syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3430599012 A syndrome associating neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatopathy evolving to fibrosis and polycystic kidneys. It has been described in two siblings. Minor facial anomalies were also observed. Two other families presented incomplete forms of this syndrome. Mutations in GLIS3 encoding for the transcription factor GLI similar 3 seem to be responsible for the syndrome. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403225011 A rare genetic disease characterized by intrauterine growth retardation, permanent neonatal diabetes mellitus, and congenital hypothyroidism. Additional manifestations include congenital glaucoma, hepatic disease (hepatitis, fibrosis, and cirrhosis), polycystic kidneys, exocrine pancreatic dysfunction, sensorineural hearing impairment, developmental delay, and mild facial dysmorphism (such as flat nasal bridge, epicanthal folds, long philtrum, and low-set ears), among others. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403226012 A rare genetic disease characterised by intrauterine growth retardation, permanent neonatal diabetes mellitus, and congenital hypothyroidism. Additional manifestations include congenital glaucoma, hepatic disease (hepatitis, fibrosis, and cirrhosis), polycystic kidneys, exocrine pancreatic dysfunction, sensorineural hearing impairment, developmental delay, and mild facial dysmorphism (such as flat nasal bridge, epicanthal folds, long philtrum, and low-set ears), among others. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3429521001000110 Neugeborenen-Diabetes - kongenitale Hypothyreose - kongenitales Glaukom - Leberfibrose - polyzystische Nieren de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3429521001000110 Neugeborenen-Diabetes - kongenitale Hypothyreose - kongenitales Glaukom - Leberfibrose - polyzystische Nieren 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
Neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatic fibrosis, polycystic kidney syndrome (disorder) Is a Congenital cystic kidney disease true Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatic fibrosis, polycystic kidney syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatic fibrosis, polycystic kidney syndrome (disorder) Is a Hereditary nephropathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatic fibrosis, polycystic kidney syndrome (disorder) Associated morphology Polycystic change true Inferred relationship Existential restriction modifier (core metadata concept) 1
Neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatic fibrosis, polycystic kidney syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatic fibrosis, polycystic kidney syndrome (disorder) Finding site Kidney structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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