91138005: Mental retardation (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
retard mental	Is a	Developmental mental disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
retard mental	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder)	Is a	False	retard mental	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare inborn error of metabolism characterized by infantile onset of global developmental delay, severe intellectual disability, seizures, and movement disorder (including tremor, hyperkinesia, and myoclonus), associated with excessive excretion of hydroxylysine in urine. There have been no further descriptions in the literature since 1970.	Is a	False	retard mental	Inferred relationship	Existential restriction modifier (core metadata concept)
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome (disorder)	Is a	False	retard mental	Inferred relationship	Existential restriction modifier (core metadata concept)
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency	Is a	False	retard mental	Inferred relationship	Existential restriction modifier (core metadata concept)
Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder)	Is a	False	retard mental	Inferred relationship	Existential restriction modifier (core metadata concept)
Laryngeal abductor paralysis with intellectual disability syndrome	Is a	False	retard mental	Inferred relationship	Existential restriction modifier (core metadata concept)
Kleefstra syndrome	Is a	False	retard mental	Inferred relationship	Existential restriction modifier (core metadata concept)
Infantile choroidocerebral calcification syndrome	Is a	False	retard mental	Inferred relationship	Existential restriction modifier (core metadata concept)
Temple Baraitser syndrome (disorder)	Is a	False	retard mental	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)	Is a	False	retard mental	Inferred relationship	Existential restriction modifier (core metadata concept)
5-amino-4-imidazole carboxamide ribosiduria (disorder)	Is a	False	retard mental	Inferred relationship	Existential restriction modifier (core metadata concept)
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome	Is a	False	retard mental	Inferred relationship	Existential restriction modifier (core metadata concept)
Bullous dystrophy macular type	Is a	False	retard mental	Inferred relationship	Existential restriction modifier (core metadata concept)
déficience intellectuelle liée à l'X type Brooks	Is a	False	retard mental	Inferred relationship	Existential restriction modifier (core metadata concept)
Intellectual disability Buenos Aires type (disorder)	Is a	False	retard mental	Inferred relationship	Existential restriction modifier (core metadata concept)
A disorder that is characterized by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive.	Is a	False	retard mental	Inferred relationship	Existential restriction modifier (core metadata concept)
Neurofaciodigitorenal syndrome	Is a	False	retard mental	Inferred relationship	Existential restriction modifier (core metadata concept)
Caudal appendage-deafness syndrome is characterised by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys.	Is a	False	retard mental	Inferred relationship	Existential restriction modifier (core metadata concept)
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)	Is a	False	retard mental	Inferred relationship	Existential restriction modifier (core metadata concept)
Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterised by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalised bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977.	Is a	False	retard mental	Inferred relationship	Existential restriction modifier (core metadata concept)
Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder)	Is a	False	retard mental	Inferred relationship	Existential restriction modifier (core metadata concept)
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.	Is a	False	retard mental	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked intellectual disability Hedera type (disorder)	Is a	False	retard mental	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterised by intellectual disability (with severe speech impairment), a myxoedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures.	Is a	False	retard mental	Inferred relationship	Existential restriction modifier (core metadata concept)
Cortical blindness, intellectual disability, polydactyly syndrome (disorder)	Is a	False	retard mental	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)	Is a	False	retard mental	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare syndrome characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992.	Is a	False	retard mental	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare congenital limb malformation characterised the association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits. Intellectual deficit was observed in all reported individuals. There have been no further reports since 1994.	Is a	False	retard mental	Inferred relationship	Existential restriction modifier (core metadata concept)
Spastic paraplegia with precocious puberty syndrome	Is a	False	retard mental	Inferred relationship	Existential restriction modifier (core metadata concept)
Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder)	Is a	False	retard mental	Inferred relationship	Existential restriction modifier (core metadata concept)
Epilepsy, microcephaly, skeletal dysplasia syndrome	Is a	False	retard mental	Inferred relationship	Existential restriction modifier (core metadata concept)
Epilepsy telangiectasia syndrome (disorder)	Is a	False	retard mental	Inferred relationship	Existential restriction modifier (core metadata concept)
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)	Is a	False	retard mental	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Is a	False	retard mental	Inferred relationship	Existential restriction modifier (core metadata concept)
Marfanoid habitus with autosomal recessive intellectual disability syndrome (disorder)	Is a	False	retard mental	Inferred relationship	Existential restriction modifier (core metadata concept)
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome (disorder)	Is a	False	retard mental	Inferred relationship	Existential restriction modifier (core metadata concept)
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder)	Is a	False	retard mental	Inferred relationship	Existential restriction modifier (core metadata concept)
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder)	Is a	False	retard mental	Inferred relationship	Existential restriction modifier (core metadata concept)
Pseudoprogeria syndrome	Is a	False	retard mental	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome characterised by severe intellectual deficit, Dandy-Walker malformation, macrocephaly, severe myopia, brachytelephalangy with short and broad fingernails, and dysmorphic facial features (such as thick eyebrows, synophrys, epicanthal folds, low-set ears, short philtrum, and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies, among others. There have been no further descriptions in the literature since 1989.	Is a	False	retard mental	Inferred relationship	Existential restriction modifier (core metadata concept)
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)	Is a	False	retard mental	Inferred relationship	Existential restriction modifier (core metadata concept)
Preaxial polydactyly, colobomata, intellectual disability syndrome	Is a	False	retard mental	Inferred relationship	Existential restriction modifier (core metadata concept)
Microcephalus, digital anomaly, intellectual disability syndrome	Is a	False	retard mental	Inferred relationship	Existential restriction modifier (core metadata concept)
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder)	Is a	False	retard mental	Inferred relationship	Existential restriction modifier (core metadata concept)
Van den Bosch syndrome (disorder)	Is a	False	retard mental	Inferred relationship	Existential restriction modifier (core metadata concept)
Aniridia, renal agenesis, psychomotor retardation syndrome	Is a	False	retard mental	Inferred relationship	Existential restriction modifier (core metadata concept)
Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)	Is a	False	retard mental	Inferred relationship	Existential restriction modifier (core metadata concept)
Megalocornea with intellectual disability syndrome	Is a	False	retard mental	Inferred relationship	Existential restriction modifier (core metadata concept)
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)	Is a	False	retard mental	Inferred relationship	Existential restriction modifier (core metadata concept)
SCARF syndrome	Is a	False	retard mental	Inferred relationship	Existential restriction modifier (core metadata concept)
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16	Is a	False	retard mental	Inferred relationship	Existential restriction modifier (core metadata concept)

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Reference Sets

Concept inactivation indicator attribute value reference set (foundation metadata concept)

REPLACED BY association reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
151009017	Mental retardation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
834389014	Mental retardation (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1235634010	MR - Mental retardation	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
151009017	Mental retardation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
151009017	Mental retardation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
834389014	Mental retardation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
834389014	Mental retardation (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1235634010	MR - Mental retardation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1235634010	MR - Mental retardation	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3389007019	Retard mental	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
255521000172116	retard mental	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3389007019	Retard mental	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
255521000172116	retard mental	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module