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782964007: Genetic disease (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3756960017 Genetic disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3756961018 Genetic disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3756960017 Genetic disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3756961018 Genetic disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5590981000241110 maladie génétique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5590981000241110 maladie génétique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5158 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Genetic disease Is a Disease true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Familial hyperinsulinemic hypoglycaemia Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Multiple endocrine neoplasia, type 1 Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN, an inherited cancer syndrome, characterised by parathyroid and anterior pituitary tumours, possibly associated with adrenal, renal, and reproductive organ tumours. Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Adult-onset progressive leukoencephalopathy, early-onset deafness (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Cyclin dependent kinase 13-related congenital heart defects, intellectual disability, facial dysmorphism syndrome (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Luscan Lumish syndrome (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
ALPI-related inflammatory bowel disease Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Tripartite motif-containing protein 22-related inflammatory bowel disease (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital pseudoarthrosis of limb (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 2-related blepharophimosis, intellectual disability syndrome (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Interferon regulatory factor 2 binding protein like-related regressive neurodevelopmental disorder, dystonia, seizures syndrome (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare neurodevelopmental syndrome characterised by developmental delay, intellectual disability of varying severity and weight disorders (overweight/obesity and eating behaviour disorders including hyperphagia, tachyphagia, food impulsiveness and a feeling of permanent hunger). Additional clinical features include learning difficulties (may be combined with dysphasia, dyspraxia, dyscalculia, dysgraphia), severe language delay, behavioural disorders (stereotypies, impulsiveness or intolerance to frustration, self or hetero aggression, autism spectrum disorder) and non-specific dysmorphism. Epilepsy and ophthalmologic abnormalities can also be observed. Endocrine abnormalities are rarely associated. Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Early-onset obesity, hyperphagia, severe developmental delay syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare, genetic, neonatal diabetes mellitus syndrome, that is a variant of DEND syndrome and has clinical characteristics of neonatal insulin-dependent diabetes mellitus, mild motor, speech or cognitive delay, and the absence of epilepsy. Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Developmental delay, epilepsy, neonatal diabetes syndrome (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Blepharophimosis, intellectual disability syndrome/genitopatellar overlap syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, gingival overgrowth syndrome (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
KLHL7-related Bohring-Opitz-like and Crisponi/cold-induced sweating-like overlap syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
KLHL7-related Crisponi/cold-induced sweating-like syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Genetic screening for disorder Has focus True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept) 1
CHD8 overgrowth syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant intellectual disability, craniofacial dysmorphism, macrocephaly, hypotonia syndrome due to H1.4 linker histone, cluster member mutation (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare, genetic, renal tubular disease characterised by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual disability, short stature and facial dysmorphism. There have been no further descriptions in the literature since 1990. Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Thiemann disease familial form (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Alexander's disease Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
CIMDAG syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Fragile X associated primary ovarian insufficiency (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Cystic fibrosis transmembrane conductance regulator-related disorder (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Cleft palate, congenital heart defect, intellectual disability syndrome (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Combined immunodeficiency due to RELA haploinsufficiency (disorder) Is a False Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare hyper-IgE syndrome characterized by early-onset moderate to severe atopic dermatitis and recurrent infections of variable severity including molluscum contagiosum, pneumonia, abscesses, bacteremia, or eczema herpeticum, among others. Other reported manifestations include asthma, food allergies, colitis, chronic diarrhea, lymphoma, and seizures, as well as dysmorphic facial features, such as prominent forehead, broad nose, and poor dentition. Is a False Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
PAPASH syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Isolated primary pigmented nodular adrenocortical disease (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Common variable immunodeficiency due to transmembrane activator and calcium-modulator and cyclophilin ligand interactor deficiency (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Symptomatic form of X-linked centronuclear myopathy in female carrier (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Hyperimmunoglobulin E syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Jansen-de Vries syndrome (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, cupped ears syndrome (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare immunodeficiency syndrome with autoimmunity characterized by early-onset autoimmune and autoinflammatory manifestations due to SOCS1 haploinsufficiency. Patients present with variable phenotypes including hyper IgE-like syndrome with eczema and purulent infections, eosinophilic allergic alveolitis, common variable immunodeficiency-like phenotype with hypogammaglobulinemia, chronic autoimmune cytopenia, T-cell lymphopenia, granulomatous lymphocytic interstitial lung disease, systemic lupus erythematosus and malignancy. Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial hyperinflammatory lymphoproliferative immunodeficiency (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
22q11.2 deletion syndrome (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Loeys-Dietz syndrome (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Mayer Rokitansky Küster Hauser syndrome (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Oculogastrointestinal neurodevelopmental syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)

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