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271603002: Height / growth measure (observable entity)

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
406454019 Height / growth measure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
664013019 Height / growth measure (observable entity) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3334968014 Height AND/OR growth measure en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
406453013 Height and growth en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
406454019 Height / growth measure en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
406454019 Height / growth measure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
664013019 Height / growth measure (observable entity) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
664013019 Height / growth measure (observable entity) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1225199011 Length and growth en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1225200014 Stature en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1225201013 Observation of height and growth en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3334968014 Height AND/OR growth measure en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

34 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Height / growth measure (observable entity) Is a Body measure (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Hallermann-Streiff syndrome (disorder) Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 4
Eunuchoid gigantism Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 3
Rud's syndrome Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 4
Achondrogenesis Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 3
Dubowitz's syndrome (disorder) Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Bloom syndrome Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 4
Madelung's deformity Interprets False Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 5
Leprechaunism syndrome Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 4
Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Disorder of stature Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Short stature disorder (disorder) Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Primordial dwarfism Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Growth hormone receptor absent Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Growth hormone receptor abnormality (disorder) Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Hypochondroplasia Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Mesomelic dysplasia Interprets False Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital malformation syndromes associated with short stature Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Dwarfism, alopecia, pseudoanodontia, cutis laxa Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 5
Schneckenbecken dysplasia Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Otospondylomegaepiphyseal dysplasia Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Achondrogenesis, type II (disorder) Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 3
Spondyloepimetaphyseal disorder Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Namaqualand hip dysplasia Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Progressive pseudorheumatoid dysplasia Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Wolcott-Rallison dysplasia Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 3
Immuno-osseous dysplasia (disorder) Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 3
Opsismodysplasia Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Spondyloenchondrodysplasia Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Metaphyseal chondrodysplasia, Spahr type Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Metaphyseal anadysplasia (disorder) Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Brachyolmia (disorder) Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Physical retardation due to protein-calorie malnutrition Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 3
Acromicric dysplasia Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 4
Osteodysplastic primordial dwarfism Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Osteodysplastic primordial dwarfism, type 1 Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Osteodysplastic primordial dwarfism, type 2 Interprets False Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Floating-Harbor syndrome (disorder) Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 3
Multiple epiphyseal dysplasia tarda type IIIa Interprets False Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 3
Kabuki make-up syndrome Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Interprets False Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 4
Constitutional short stature Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Thanatophoric dysplasia, type 1 (disorder) Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Thanatophoric dysplasia, type 2 Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Sponastrime dysplasia (disorder) Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Acroscyphodysplasia (disorder) Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Metaphyseal chondrodysplasia, Sedaghatian type (disorder) Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Brachyolmia - Maroteaux type (disorder) Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Port-wine stain in Rubinstein-Taybi syndrome Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Short stature associated with bone marrow transplant (disorder) Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 3
Rachitic dwarf Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 3
Short stature due to radiation therapy (disorder) Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 6
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) Interprets False Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 3
Biemond syndrome type 2 (BS2) is a rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype which includes iris coloboma, short stature, obesity, hypogonadism, postaxial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. BS2 shares features with Bardet-Biedl syndrome. There have been no further descriptions in the literature since 1997. Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare syndrome characterised by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 4
Moderate nutritional stunting in infancy childhood and adolescence Interprets False Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 4
Severe nutritional stunting in infancy childhood and adolescence Interprets False Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 4
X-linked intellectual disability Atkin type (disorder) Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Primary immunodeficiency syndrome due to p14 deficiency (disorder) Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 4
Spondyloepiphyseal dysplasia Reardon type (disorder) Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Spondyloepiphyseal dysplasia Cantu type Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 4
X-linked intellectual disability Cilliers type (disorder) Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 3
12q14 microdeletion syndrome (disorder) Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 5
Carpenter Waziri syndrome Interprets False Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 3
Radioulnar synostosis with microcephaly and scoliosis syndrome Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 5
Spondyloepimetaphyseal dysplasia aggrecan type (disorder) Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare primary bone dysplasia due to matrilin-3 variants and characterised by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands. Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Spondyloepimetaphyseal dysplasia Missouri type Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type (disorder) Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Spondyloepimetaphyseal dysplasia Shohat type (disorder) Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Spondyloepiphyseal dysplasia tarda Kohn type (disorder) Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Smith Fineman Myers syndrome Interprets False Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 3
Short stature Brussels type Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 4
Microcephalus with brachydactyly and kyphoscoliosis syndrome Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 5
Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterised by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac and skeletal (hypoplastic thumbs and first metacarpals) abnormalities. Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 5
Mesomelic dysplasia Kantaputra type (disorder) Interprets False Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 3
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 3
Cleft palate with short stature and vertebral anomaly syndrome (disorder) Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 5
Cleidorhizomelic syndrome (disorder) Interprets False Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 3
An exceedingly rare, autosomal recessive immune disease characterised by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978. Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 4
A rare primary bone dysplasia characterized by the association of multiple epiphyseal dysplasia with macrocephaly and dysmorphic facial features (such as frontal bossing, hypertelorism, flat malar region, low-set ears, and short neck). Patients are of normal stature and present with joint swelling and genu valgum. Additional reported manifestations include clinodactyly, spindle-shaped fingers, and pectus excavatum. Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 3
Multiple epiphyseal dysplasia Beighton type (disorder) Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 5
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability. Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 4
Brachymorphism with onychodysplasia and dysphalangism syndrome Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 4
Brachytelephalangy, facial dysmorphism, Kallmann syndrome Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 3
Cardiospondylocarpofacial syndrome (disorder) Interprets False Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 5
Czech dysplasia metatarsal type (disorder) Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Chondrodysplasia with disorder of sex development syndrome (disorder) Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 3
Eiken syndrome Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 4
Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterized by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25). Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 3
Short stature with webbed neck and congenital heart disease syndrome Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 4
Short stature due to primary acid labile subunit deficiency (disorder) Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 5
Hip dysplasia Beukes type (disorder) Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 4
Hypogonadism with mitral valve prolapse and intellectual disability syndrome Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 4
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 6
Epiphyseal dysplasia, microcephalus, nystagmus syndrome Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 4
A rare, syndromic intellectual disability characterized by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993. Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 8
Kleinwuchs, osteochondrodysplastischer - Schwerhörigkeit - Retinitis pigmentosa Interprets False Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 5
Parastremmatic dwarfism (disorder) Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Crome syndrome Interprets True Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 4
Dyschondrosteose - Nephritis Interprets False Height / growth measure (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 4

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