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362975008: Degenerative disorder (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
482107014 Degenerative disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
754746018 Degenerative disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
335831000077117 affection dégénérative fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3603 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Degenerative disorder Is a Disease true Inferred relationship Some
Degenerative disorder Associated morphology dégénérescence false Inferred relationship Some
Degenerative disorder Associated morphology Degenerative abnormality true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Arthritis mutilans Is a True Degenerative disorder Inferred relationship Some
A rare idiopathic interstitial pneumonia characterized by prominent subpleural and parenchymal fibroelastosis and pleural fibrosis, predominantly involving the upper lobes. Signs and symptoms include non-productive cough, dyspnea, and recurrent respiratory infections. Pneumothorax is a frequently reported complication. Pulmonary function test reveals a restrictive pattern and reduced diffusing capacity. Computed tomography shows pleural thickening with signs of fibrosis (traction bronchiectasis, architectural distortion, and loss of volume), and reticulation. Is a True Degenerative disorder Inferred relationship Some
Menkes kinky-hair syndrome Is a True Degenerative disorder Inferred relationship Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, dysmorphic facial features (such as prominent glabella, synophrys, and prognathism), generalized hirsutism, bilateral single palmar creases, and seizures. Additional reported manifestations include slowly progressive neurological deterioration with muscular weakness and impaired gait and balance, as well as hypogammaglobulinemia with specific absence of plasma and/or secretory IgA, among others. Brain imaging may show mild cerebellar atrophy and thin corpus callosum. Is a True Degenerative disorder Inferred relationship Some
Acyl-CoA oxidase deficiency Is a True Degenerative disorder Inferred relationship Some
An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism. Is a False Degenerative disorder Inferred relationship Some
Steatosis Is a True Degenerative disorder Inferred relationship Some
A neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Associated with mutations in the superoxide dismutase-1 gene (SOD1) on chromosome 21q22. Is a True Degenerative disorder Inferred relationship Some
Kidney crystallization Is a False Degenerative disorder Inferred relationship Some
Fibrocystic renal degeneration Is a True Degenerative disorder Inferred relationship Some
A neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Caused by heterozygous mutation in the FUS gene on chromosome 16p11. Is a True Degenerative disorder Inferred relationship Some
A neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Associated with the ALS3 gene on the cytogenetic location 18q21. Is a True Degenerative disorder Inferred relationship Some
A neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Cytogenetic location is 20p13. Is a True Degenerative disorder Inferred relationship Some
A neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Caused by heterozygous mutation in the VAPB gene on chromosome 20q13. Is a True Degenerative disorder Inferred relationship Some
A neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Caused by heterozygous mutation in the angiogenin gene (ANG) on chromosome 14q11. Is a True Degenerative disorder Inferred relationship Some
A neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. There is evidence this disease is caused by heterozygous mutation in the TARDBP gene that encodes the TDP43 protein on chromosome 1p36. Is a True Degenerative disorder Inferred relationship Some
Transfusion reaction due to serum protein reaction Is a False Degenerative disorder Inferred relationship Some
Atrophy of multiple endocrine glands (disorder) Is a True Degenerative disorder Inferred relationship Some
Atrophy of adrenal cortex (disorder) Is a False Degenerative disorder Inferred relationship Some
Dystrophy of multiple endocrine glands (disorder) Is a True Degenerative disorder Inferred relationship Some
Degeneration of adrenal gland Is a True Degenerative disorder Inferred relationship Some
Degeneration of thyroid (disorder) Is a True Degenerative disorder Inferred relationship Some
Laser-induced hyperpigmentation (disorder) Is a False Degenerative disorder Inferred relationship Some
Cataract due to degenerative disorder Due to True Degenerative disorder Inferred relationship Some 2
Deposit on gingivae Is a False Degenerative disorder Inferred relationship Some
Plaque in skin or mucosa Is a True Degenerative disorder Inferred relationship Some
Placenta fatty deposits Is a False Degenerative disorder Inferred relationship Some
Pigmentation of oral mucosa Is a False Degenerative disorder Inferred relationship Some
Vocal cord obliterated Is a True Degenerative disorder Inferred relationship Some
C1q nephropathy Is a False Degenerative disorder Inferred relationship Some
Necrobiosis lipoidica Is a True Degenerative disorder Inferred relationship Some
Lucey-Driscoll syndrome Is a False Degenerative disorder Inferred relationship Some
Xanthomatosis Is a True Degenerative disorder Inferred relationship Some
Local panatrophy Is a True Degenerative disorder Inferred relationship Some
Glomerular disease associated with C4 deposition, characterized by bright staining for C4 with minimal or no immunoglobulin and essentially absent or minimal staining for C3 on biopsy. Is a False Degenerative disorder Inferred relationship Some
Complement component 3 glomerulopathy (disorder) Is a False Degenerative disorder Inferred relationship Some
Massive perivillous fibrin deposition Is a False Degenerative disorder Inferred relationship Some
Atrophy of motor neuron cell (disorder) Is a True Degenerative disorder Inferred relationship Some
Atrophy of duodenum (disorder) Is a True Degenerative disorder Inferred relationship Some
Atrophy of skeletal muscle fiber (disorder) Is a True Degenerative disorder Inferred relationship Some

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