1821000146108: Hereditary metabolic disease (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\Hereditary metabolic disease

\Metabolic disease\Hereditary metabolic disease

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Aug 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5089667015 Hereditary metabolic disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5089668013 Hereditary metabolic disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1868551000195111 malattia metabolica ereditaria it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

7795531000241113 maladie métabolique héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary metabolic disease	Is a	Hereditary disease	true	Inferred relationship	Some
Hereditary metabolic disease	Is a	Metabolic disease	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Alstrom syndrome	Is a	True	Hereditary metabolic disease	Inferred relationship	Some
Inborn error of metabolism	Is a	True	Hereditary metabolic disease	Inferred relationship	Some
Inherited methylmalonic acidemia AND homocystinuria	Is a	True	Hereditary metabolic disease	Inferred relationship	Some
Hereditary xanthinuria	Is a	True	Hereditary metabolic disease	Inferred relationship	Some
Citrullinemia (disorder)	Is a	True	Hereditary metabolic disease	Inferred relationship	Some
Inherited disorder of porphyrin metabolism (disorder)	Is a	True	Hereditary metabolic 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	True	Hereditary metabolic disease	Inferred relationship	Some
Hereditary hemochromatosis	Is a	True	Hereditary metabolic disease	Inferred relationship	Some
A rare form of amyloidosis characterized by accumulation and extensive visceral deposition of an amyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy.	Is a	True	Hereditary metabolic disease	Inferred relationship	Some
Hereditary hypertyrosinemia	Is a	True	Hereditary metabolic disease	Inferred relationship	Some
Inherited aminoaciduria	Is a	True	Hereditary metabolic disease	Inferred relationship	Some
Thymidine kinase 2 deficiency	Is a	True	Hereditary metabolic disease	Inferred relationship	Some
A rare genetic leukodystrophy characterized by infantile onset of stagnation and regression of motor and language development resulting in complete lack of communication and purposeful movement. Further neurological manifestations include truncal hypotonia, appendicular spasticity, dystonia, optic disc pallor, peripheral neuropathy, and neurogenic bladder. Patients also present multiple contractures, late-onset relative macrocephaly, short stature, and facial dysmorphism (including coarse facial features, sloping forehead, thick eyebrows, low-set ears, prominent nose, flat philtrum, and prominent lower lip). Brain imaging at advanced stages shows diffuse abnormal white matter signal and severe atrophy. Sural nerve biopsy reveals decreased myelination.	Is a	True	Hereditary metabolic disease	Inferred relationship	Some

This concept is not in any reference sets