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32570581000036105: Problem/Diagnosis reference set (foundation metadata concept)

Status: current, Primitive. Date: 31-May 2012. Module: SNOMED Clinical Terms Australian extension

Descriptions:

Id Description Lang Type Status Case? Module
108644681000036112 Problem/Diagnosis reference set (foundation metadata concept) en Fully specified name Active Initial character case insensitive SNOMED Clinical Terms Australian extension
108644691000036114 Problem/Diagnosis reference set en Synonym Active Initial character case insensitive SNOMED Clinical Terms Australian extension
4351251000168110 <p>Supports the recording of a patient problem or diagnosis for medical records within Australia.</p><p>This reference set can be used within implementations of the <em>Medical History DCM</em>&nbsp;(<em>Medical History Detailed Clinical Model Specification.</em> Sydney: NEHTA; 2015. v1.0.).</p><p><b>Target client: </b>This reference set has been developed for those who are implementing the <em>Medical History DCM.</em></p> en Definition Active Case sensitive SNOMED Clinical Terms Australian extension

121309 members. Search Members:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Problem/Diagnosis reference set Has licence SNOMED CT-AU licence​ true Inferred relationship Some 1629158626
Problem/Diagnosis reference set Developed by Australian Digital Health Agency true Inferred relationship Some 880198101
Problem/Diagnosis reference set Is a Reference sets for Problem/diagnosis true Inferred relationship Some
Problem/Diagnosis reference set Is a Attribute value type false Inferred relationship Some
Problem/Diagnosis reference set Is a Simple type reference set true Inferred relationship Some
Members
X-linked Charcot-Marie-Tooth disease type 6
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
X-linked Emery-Dreifuss muscular dystrophy
X-linked absence of thyroxine-binding globulin
X-linked acrogigantism due to Xq26 microduplication
X-linked agammaglobulinaemia
X-linked agammaglobulinaemia with growth hormone deficiency
X-linked asexual dwarfism
X-linked calvarial hyperostosis
X-linked central congenital hypothyroidism with late-onset testicular enlargement
X-linked cerebral, cerebellar, coloboma syndrome
X-linked cleft palate and ankyloglossia
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome
X-linked complex hereditary spastic paraplegia
X-linked complicated corpus callosum dysgenesis
X-linked cone dysfunction syndrome with myopia
X-linked congenital dyserythropoietic anaemia with thrombocytopenia
X-linked congenital generalised hypertrichosis
X-linked corneal dermoid
X-linked creatine deficiency
X-linked diffuse leiomyomatosis with Alport syndrome
X-linked distal arthrogryposis multiplex congenita
X-linked distal hereditary motor neuropathy
X-linked distal spinal muscular atrophy type 3
X-linked dominant chondrodysplasia Chassaing Lacombe type
X-linked dominant erythropoietic protoporphyria
X-linked dominant hereditary disease
X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
X-linked dyskeratosis congenita
X-linked dystonia parkinsonism
X-linked endothelial corneal dystrophy
X-linked epilepsy with learning disability and behaviour disorder syndrome
X-linked excess of thyroxine-binding globulin
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
X-linked hereditary disease
X-linked hereditary motor and sensory neuropathy
X-linked hereditary sensory and autonomic neuropathy with deafness
X-linked hereditary spastic paraplegia
X-linked hydrocephalus syndrome
X-linked hyper-IgM syndrome
X-linked hypodontia
Hypoparathyroidism - X-linked
X-linked ichthyosis with steryl-sulfatase deficiency
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
X-linked immunoneurologic disorder
Partington syndrome
Christianson syndrome
X-linked intellectual disability Abidi type
X-linked intellectual disability Armfield type
Atkin Flaitz syndrome
X-linked intellectual disability Brooks type
X-linked intellectual disability Cabezas type
X-linked intellectual disability Cantagrel type
X-linked intellectual disability Cilliers type
X-linked intellectual disability Hedera type
X-linked intellectual disability Miles-Carpenter type
X-linked intellectual disability Nascimento type
X-linked intellectual disability Pai type
X-linked intellectual disability Schimke type
X-linked intellectual disability Seemanova type
X-linked intellectual disability Shrimpton type
X-linked intellectual disability Siderius type
X-linked intellectual disability Snyder type
X-linked intellectual disability Stevenson type
X-linked intellectual disability Stocco Dos Santos type
X-linked intellectual disability Stoll type
X-linked intellectual disability Turner type
X-linked intellectual disability Van Esch type
X-linked intellectual disability Wilson type
X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome
X-linked intellectual disability due to GRIA3 mutations
X-linked intellectual disability hypotonic face syndrome
X-linked intellectual disability with acromegaly and hyperactivity syndrome
X-linked intellectual disability with ataxia and apraxia syndrome
X-linked intellectual disability with cerebellar hypoplasia syndrome
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome
X-linked intellectual disability with hypogammaglobulinaemia and progressive neurological deterioration syndrome
X-linked intellectual disability with marfanoid habitus
X-linked intellectual disability with plagiocephaly syndrome
X-linked intellectual disability with seizure and psoriasis syndrome
X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
X-linked intellectual disability, craniofacioskeletal syndrome
X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
X-linked intellectual disability, hypotonia, movement disorder syndrome
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
X-linked intellectual disability, macrocephaly, macroorchidism syndrome
X-linked intellectual disability, short stature, overweight syndrome
X-linked intellectual disability-psychosis-macroorchidism syndrome
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
X-linked lethal multiple pterygium syndrome
X-linked limb girdle muscular dystrophy with normal dystrophin
X-linked lissencephaly with abnormal genitalia syndrome
X-linked lymphoproliferative disease due to SH2D1A deficiency
X-linked lymphoproliferative disease due to XIAP deficiency
X-linked lymphoproliferative syndrome

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