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85995004: Autosomal recessive hereditary disorder (disorder)

Status: current, Not 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
142575014 Recessive hereditary disorder, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
142576010 Hereditary disorder trait, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
201251014 Recessive hereditary disorder (autosomal) en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
201252019 Hereditary disorder trait (autosomal) en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
201253012 Autosomal recessive hereditary disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
828165010 Autosomal recessive hereditary disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2599051000052111 autosomalt recessiv ärftlig sjukdom sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

1752 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal recessive hereditary disorder Is a Autosomal hereditary disorder true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Aicardi Goutieres syndrome type 2 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Aicardi Goutieres syndrome type 3 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Aicardi Goutieres syndrome type 4 (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Aicardi Goutieres syndrome type 5 (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Mucopolysaccharidosis-like plus disease Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Stromme syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Sugarman brachydactyly (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
SLC39A8 congenital disorder of glycosylation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Coiled-coil domain containing 115 congenital disorder of glycosylation (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Isolated generalized anhidrosis with normal sweat glands Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Chronic enteropathy associated with solute carrier organic anion transporter family member 2A1 gene (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Intellectual disability, epilepsy, extrapyramidal syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
VPS11-related autosomal recessive hypomyelinating leukodystrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Seizures, scoliosis, macrocephaly syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Short stature, brachydactyly, obesity, global developmental delay syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive hereditary spastic paraplegia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Glycogen storage disease due to aldolase A deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive intermediate Charcot-Marie-Tooth disease type D (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Severe autosomal recessive macrothrombocytopenia (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Deficiency of galactose mutarotase Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Phosphoglucomutase 3-related congenital disorder of glycosylation (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Mitochondrial phosphate carrier deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Combined oxidative phosphorylation defect type 28 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Basel Vanagaite Smirin Yosef syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some

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