32895009: Hereditary disease (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Genetic disease\Hereditary disease

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary disease	Is a	Disease	false	Inferred relationship	Some
Hereditary disease	Is a	Genetic disease	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
maladie héréditaire familiale susceptible d'affecter le fœtus	Is a	False	Hereditary disease	Inferred relationship	Some
syndrome génétique	Is a	False	Hereditary disease	Inferred relationship	Some
Autosomal hereditary disorder	Is a	True	Hereditary disease	Inferred relationship	Some
Hereditary retinal dystrophy	Is a	False	Hereditary disease	Inferred relationship	Some
Hereditary choroidal dystrophy	Is a	False	Hereditary disease	Inferred relationship	Some
Polygenic hereditary disorder	Is a	True	Hereditary disease	Inferred relationship	Some
Sex-linked hereditary disorder	Is a	True	Hereditary disease	Inferred relationship	Some
Connective tissue hereditary disorder	Is a	False	Hereditary disease	Inferred relationship	Some
Developmental hereditary disorder	Is a	True	Hereditary disease	Inferred relationship	Some
Hereditary disorder by system	Is a	True	Hereditary disease	Inferred relationship	Some
trouble inflammatoire héréditaire	Is a	False	Hereditary disease	Inferred relationship	Some
Mendelian disorders	Is a	True	Hereditary disease	Inferred relationship	Some
Metabolic hereditary disorder	Is a	False	Hereditary disease	Inferred relationship	Some
affection héréditaire du tissu conjonctif	Is a	False	Hereditary disease	Inferred relationship	Some
Sequelae of hereditary diseases	Temporally follows	False	Hereditary disease	Inferred relationship	Some
Genetic counseling	Has focus	True	Hereditary disease	Inferred relationship	Some	2
Inborn error of metabolism	Is a	False	Hereditary disease	Inferred relationship	Some
Sequelae of hereditary diseases	After	True	Hereditary disease	Inferred relationship	Some	1
elliptocytose congénitale	Is a	False	Hereditary disease	Inferred relationship	Some
Familial erythrocytosis	Is a	False	Hereditary disease	Inferred relationship	Some
Thalassemia	Is a	False	Hereditary disease	Inferred relationship	Some
Citrullinemia (disorder)	Is a	False	Hereditary disease	Inferred relationship	Some
Hereditary acanthocytosis	Is a	False	Hereditary disease	Inferred relationship	Some
Hereditary lymphedema	Is a	False	Hereditary disease	Inferred relationship	Some
Family history of hereditary disease (situation)	Associated finding	False	Hereditary disease	Inferred relationship	Some	1
Inherited platelet disorder	Is a	False	Hereditary disease	Inferred relationship	Some
Hereditary hypoplasminogenemia	Is a	True	Hereditary disease	Inferred relationship	Some
Hereditary dysplasminogenemia	Is a	True	Hereditary disease	Inferred relationship	Some
Hereditary motor end-plate disease	Is a	False	Hereditary disease	Inferred relationship	Some
Hereditary coagulation factor deficiency	Is a	True	Hereditary disease	Inferred relationship	Some
Familial hemorrhagic diathesis	Is a	True	Hereditary disease	Inferred relationship	Some
Family history of hereditary disease (situation)	Associated finding	True	Hereditary disease	Inferred relationship	Some	1
Hereditary pancreatitis	Is a	False	Hereditary disease	Inferred relationship	Some
Familial Mediterranean fever	Is a	False	Hereditary disease	Inferred relationship	Some
Family history of hereditary disease (situation)	Associated finding	False	Hereditary disease	Inferred relationship	Some	1
Fetal hereditary disease	Is a	True	Hereditary disease	Inferred relationship	Some
Inherited aminoaciduria	Is a	False	Hereditary disease	Inferred relationship	Some
Hereditary cancer-predisposing syndrome	Is a	True	Hereditary disease	Inferred relationship	Some
Hereditary disease suspected (situation)	Associated finding	True	Hereditary disease	Inferred relationship	Some	1
Genetic counseling for heritable disorder with patient at risk	Has focus	True	Hereditary disease	Inferred relationship	Some	1
Genetic counseling for heritable disorder with fetus at risk	Has focus	True	Hereditary disease	Inferred relationship	Some	2
Congenital vascular malformation due to inherited syndrome (disorder)	Due to	True	Hereditary disease	Inferred relationship	Some	2
Congenital dyserythropoietic anemia	Is a	False	Hereditary disease	Inferred relationship	Some
Gingival disease due to genetic disorder (disorder)	Due to	True	Hereditary disease	Inferred relationship	Some	1
Connective tissue hereditary disorder	Is a	True	Hereditary disease	Inferred relationship	Some
Syndactyly of fingers type 8 (disorder)	Is a	False	Hereditary disease	Inferred relationship	Some
Growth delay due to IGF-I resistance is characterized by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum).	Is a	False	Hereditary disease	Inferred relationship	Some
A rare congenital limb malformation characterized by duplication of the fifth digit in a hand or foot, with an extra, well-formed, functional digit at the metacarpophalangeal/metatarsophalangeal or carpometacarpal/tarsometatarsal joint. The malformation can be an isolated finding or be associated with a large number of other anomalies.	Is a	False	Hereditary disease	Inferred relationship	Some
A rare congenital limb malformation characterized by duplication of the fifth digit in a hand or foot, the sixth digit being rudimentary, poorly developed, and non-functional, frequently consisting of additional soft tissue on a pedicle. The anomaly can be unilateral or bilateral.	Is a	False	Hereditary disease	Inferred relationship	Some
This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases.	Is a	False	Hereditary disease	Inferred relationship	Some
Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterized by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinemia, in the presence of preserved reproductive function.	Is a	True	Hereditary disease	Inferred relationship	Some
A very rare inherited form of thyroglossal duct cyst (TDC) characterized by a mass measuring 3 cm in diameter or less in the midline area of the neck.	Is a	True	Hereditary disease	Inferred relationship	Some
Inherited predisposition to essential thrombocythemia	Is a	False	Hereditary disease	Inferred relationship	Some
A rare genetic neurological disorder characterized by the presence of two or more of the main criteria for classic Rett syndrome (loss of acquired purposeful hand skills, loss of acquired spoken language, gait abnormalities, stereotypic hand movements), a period of regression followed by recovery or stabilization, and five out of eleven supportive criteria (breathing difficulties, bruxism, impaired sleep pattern, abnormal muscle tone, peripheral vasomotor disturbances, scoliosis/kyphosis, delayed growth, small cold hands and feet, inappropriate laughter or screaming spells, decreased pain sensation, and intense eye communication). Like classic Rett syndrome, it almost exclusively affects girls, while the disease course may be either milder or more severe.	Is a	False	Hereditary disease	Inferred relationship	Some
An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.	Is a	False	Hereditary disease	Inferred relationship	Some
Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly.	Is a	False	Hereditary disease	Inferred relationship	Some
Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability.	Is a	False	Hereditary disease	Inferred relationship	Some
STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia except for increased erythrocyte protoporphyrin levels.	Is a	True	Hereditary disease	Inferred relationship	Some
Monogenic autoinflammatory syndrome (disorder)	Is a	False	Hereditary disease	Inferred relationship	Some
A rare syndromic intestinal malformation characterized by the association of marfanoid features (including marfanoid habitus, severe myopia, retinal detachment, and mitral valve prolapse) with visceral diverticula (inguinal and/or femoral hernia and diverticula of the large and small bowel or urinary bladder). Some patients also had diaphragmatic eventration. There have been no further descriptions in the literature since 1996.	Is a	False	Hereditary disease	Inferred relationship	Some
Non-androgenic hypertrichosis co-occurrent and due to genetic disease (disorder)	Due to	True	Hereditary disease	Inferred relationship	Some	2
Hereditary amyloidosis (disorder)	Is a	True	Hereditary disease	Inferred relationship	Some
Hereditary vitamin B12 deficiency anemia (disorder)	Is a	True	Hereditary disease	Inferred relationship	Some
Hereditary folate deficiency anemia (disorder)	Is a	True	Hereditary disease	Inferred relationship	Some
Family history of heritable malignancy (situation)	Associated finding	True	Hereditary disease	Inferred relationship	Some	1
Kabuki make-up syndrome	Is a	False	Hereditary disease	Inferred relationship	Some
Changes in gene function that are mitotically and/or meiotically heritable and that do not entail a change in DNA sequence.	Is a	False	Hereditary disease	Inferred relationship	Some
Familial benign copper deficiency is a rare disorder of mineral absorption and transport characterized by hypocupremia that manifests as failure to thrive, mild anemia, repeated seizures, hypotonia, and seborrheic skin. Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper. There have been no further descriptions in the literature since 1988.	Is a	False	Hereditary disease	Inferred relationship	Some
Craniodigital syndrome - intellectual deficit is characterized by syndactyly of the fingers and toes, characteristic facies (startled facial expression with a small, pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit.	Is a	False	Hereditary disease	Inferred relationship	Some
Hereditary ataxia (disorder)	Is a	False	Hereditary disease	Inferred relationship	Some
A rare multisystemic genetic disorder characterized by characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness.	Is a	False	Hereditary disease	Inferred relationship	Some
Rare non-syndromic intellectual disability is a rare, hereditary, neurologic disease characterized by early-onset cognitive impairment as a sole disability. The disease may be associated with autism, epilepsy and neuromuscular deficits.	Is a	False	Hereditary disease	Inferred relationship	Some
Chronic granulomatous disease (disorder)	Is a	True	Hereditary disease	Inferred relationship	Some
Inherited arthrogryposis	Is a	False	Hereditary disease	Inferred relationship	Some
Hereditary hypertyrosinemia	Is a	False	Hereditary disease	Inferred relationship	Some
Hereditary hemochromatosis	Is a	False	Hereditary disease	Inferred relationship	Some
Hereditary thrombophilia (disorder)	Is a	True	Hereditary disease	Inferred relationship	Some
Hereditary xanthinuria	Is a	False	Hereditary disease	Inferred relationship	Some
Inherited disorder of porphyrin metabolism (disorder)	Is a	False	Hereditary disease	Inferred relationship	Some
Inherited methylmalonic acidemia AND homocystinuria	Is a	False	Hereditary disease	Inferred relationship	Some
Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain.	Is a	True	Hereditary disease	Inferred relationship	Some
Sea-blue histiocyte syndrome	Is a	True	Hereditary disease	Inferred relationship	Some
Hereditary iron deficiency anemia	Is a	True	Hereditary disease	Inferred relationship	Some
Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder)	Is a	True	Hereditary disease	Inferred relationship	Some
A rare immunodeficiency syndrome characterized by a narrow vulnerability to poorly virulent mycobacteria such as bacillus Calmette-Guerin (BCG) vaccines and environmental mycobacteria and defined by severe recurrent infections, either disseminated or localized. The most serious variants develop in early childhood with first infections generally occurring around the age of 3. MSMD can be inherited in an autosomal dominant, autosomal recessive or X-linked manner.	Is a	True	Hereditary disease	Inferred relationship	Some
Thymidine kinase 2 deficiency	Is a	False	Hereditary disease	Inferred relationship	Some
Hereditary metabolic disease	Is a	True	Hereditary disease	Inferred relationship	Some
Dystonia due to hereditary disease (disorder)	Due to	True	Hereditary disease	Inferred relationship	Some	3
Hereditary arginine vasopressin-related polyuria (disorder)	Is a	True	Hereditary disease	Inferred relationship	Some
Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy.	Is a	True	Hereditary disease	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
54901018	Hereditary disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
54905010	Inherited disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
764232019	Hereditary disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3891000077111	maladie héréditaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
40021000188114	pathologie héréditaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module