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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
7318561000241112 mesure de la taille et/ou de la croissance fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

34 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Height / growth measure Is a Body measure true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Hallermann-Streiff syndrome Interprets True Height / growth measure Inferred relationship Some 4
Eunuchoid gigantism Interprets True Height / growth measure Inferred relationship Some 3
Rud's syndrome Interprets True Height / growth measure Inferred relationship Some 4
Achondrogenesis Interprets True Height / growth measure Inferred relationship Some 3
Dubowitz's syndrome Interprets True Height / growth measure Inferred relationship Some 2
Bloom syndrome Interprets True Height / growth measure Inferred relationship Some 4
Madelung's deformity (disorder) Interprets False Height / growth measure Inferred relationship Some 5
Leprechaunism syndrome Interprets True Height / growth measure Inferred relationship Some 4
Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency Interprets True Height / growth measure Inferred relationship Some 2
Disorder of stature Interprets True Height / growth measure Inferred relationship Some 2
Short stature disorder Interprets True Height / growth measure Inferred relationship Some 2
Primordial dwarfism Interprets True Height / growth measure Inferred relationship Some 2
Growth hormone receptor absent Interprets True Height / growth measure Inferred relationship Some 2
Growth hormone receptor abnormality Interprets True Height / growth measure Inferred relationship Some 2
Hypochondroplasia Interprets True Height / growth measure Inferred relationship Some 2
Mesomelic dysplasia Interprets False Height / growth measure Inferred relationship Some 3
Congenital malformation syndromes associated with short stature Interprets True Height / growth measure Inferred relationship Some 2
Dwarfism, alopecia, pseudoanodontia, cutis laxa Interprets True Height / growth measure Inferred relationship Some 5
Schneckenbecken dysplasia Interprets True Height / growth measure Inferred relationship Some 2
Otospondylomegaepiphyseal dysplasia Interprets True Height / growth measure Inferred relationship Some 2
Achondrogenesis, type II Interprets True Height / growth measure Inferred relationship Some 3
Spondyloepimetaphyseal disorder Interprets True Height / growth measure Inferred relationship Some 2
Namaqualand hip dysplasia Interprets True Height / growth measure Inferred relationship Some 2
Progressive pseudorheumatoid dysplasia Interprets True Height / growth measure Inferred relationship Some 2
Wolcott-Rallison dysplasia Interprets True Height / growth measure Inferred relationship Some 3
Immuno-osseous dysplasia Interprets True Height / growth measure Inferred relationship Some 3
Opsismodysplasia Interprets True Height / growth measure Inferred relationship Some 2
Spondyloenchondrodysplasia Interprets True Height / growth measure Inferred relationship Some 2
Metaphyseal chondrodysplasia, Spahr type Interprets True Height / growth measure Inferred relationship Some 2
Metaphyseal anadysplasia Interprets True Height / growth measure Inferred relationship Some 2
Brachyolmia Interprets True Height / growth measure Inferred relationship Some 2
Physical retardation due to protein-calorie malnutrition Interprets True Height / growth measure Inferred relationship Some 3
Acromicric dysplasia Interprets True Height / growth measure Inferred relationship Some 4
Osteodysplastic primordial dwarfism Interprets True Height / growth measure Inferred relationship Some 2
Osteodysplastic primordial dwarfism, type 1 Interprets True Height / growth measure Inferred relationship Some 2
Osteodysplastic primordial dwarfism, type 2 Interprets False Height / growth measure Inferred relationship Some 2
Floating-Harbor syndrome Interprets True Height / growth measure Inferred relationship Some 3
Multiple epiphyseal dysplasia tarda type IIIa Interprets False Height / growth measure Inferred relationship Some 3
Kabuki make-up syndrome Interprets True Height / growth measure Inferred relationship Some 2
Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Interprets False Height / growth measure Inferred relationship Some 4
Constitutional short stature (disorder) Interprets True Height / growth measure Inferred relationship Some 2
Thanatophoric dysplasia, type 1 (disorder) Interprets True Height / growth measure Inferred relationship Some 2
Thanatophoric dysplasia, type 2 (disorder) Interprets True Height / growth measure Inferred relationship Some 2
Sponastrime dysplasia (disorder) Interprets True Height / growth measure Inferred relationship Some 2
Acroscyphodysplasia (disorder) Interprets True Height / growth measure Inferred relationship Some 2
Metaphyseal chondrodysplasia, Sedaghatian type (disorder) Interprets True Height / growth measure Inferred relationship Some 2
Brachyolmia - Maroteaux type (disorder) Interprets True Height / growth measure Inferred relationship Some 2
Port-wine stain in Rubinstein-Taybi syndrome (disorder) Interprets True Height / growth measure Inferred relationship Some 2
Short stature associated with bone marrow transplant (disorder) Interprets True Height / growth measure Inferred relationship Some 3
Rachitic dwarf Interprets True Height / growth measure Inferred relationship Some 3
Short stature due to radiation therapy (disorder) Interprets True Height / growth measure Inferred relationship Some 6
A rare primary bone dysplasia characterized by the association of spondylometaphyseal dysplasia, generalized joint laxity, and dentinogenesis imperfecta. Main skeletal abnormalities comprise short stature, narrow chest, scoliosis, mesomelic limb shortening, and brachydactyly. Radiographic features include severe metaphyseal irregularities of the tubular bones, platyspondyly with coronal clefts, cone-shaped epiphyses of the hands, square iliac wings, and coxa valga. Additional extraskeletal manifestations like pulmonary hypoplasia, cystic renal disease, and non-obstructive hydrocephalus have also been reported. Interprets False Height / growth measure Inferred relationship Some 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 Inferred relationship Some 2
A rare syndrome characterized 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 Inferred relationship Some 4
Moderate nutritional stunting in infancy childhood and adolescence Interprets False Height / growth measure Inferred relationship Some 4
Severe nutritional stunting in infancy childhood and adolescence Interprets False Height / growth measure Inferred relationship Some 4
A rare X-linked syndromic intellectual disability characterized by variable intellectual deficit, macrocephaly, short stature, and facial dysmorphism (such as prominent forehead, prominent supraorbital ridges, hypertelorism, downslanting palpebral fissures, broad nasal tip, anteverted nostrils, thick lower lip, and localized microdontia). Additional reported features include seizures, post-pubertal macroorchidism, obesity, and short, broad hands with tapered fingers. Interprets True Height / growth measure Inferred relationship Some 2
Primary immunodeficiency syndrome due to p14 deficiency is characterized by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections. Interprets True Height / growth measure Inferred relationship Some 4
Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process. Interprets True Height / growth measure Inferred relationship Some 2
Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsia and brachyphalangia). Interprets True Height / growth measure Inferred relationship Some 4
A rare developmental defect characterized by mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears). Interprets True Height / growth measure Inferred relationship Some 3
12q14 microdeletion syndrome is characterized by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis. Interprets True Height / growth measure Inferred relationship Some 5
Carpenter Waziri syndrome Interprets False Height / growth measure Inferred relationship Some 3
Radioulnar synostosis-microcephaly-scoliosis syndrome, also known as Guiffré-Tsukahara syndrome, is an extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit. Interprets True Height / growth measure Inferred relationship Some 5
Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings. Interprets True Height / growth measure Inferred relationship Some 2
A rare primary bone dysplasia due to matrilin-3 variants and characterized 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 Inferred relationship Some 2
Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood. Interprets True Height / growth measure Inferred relationship Some 2
Spondyloepimetaphyseal dysplasia (SEMD), Pakistani type is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence. Interprets True Height / growth measure Inferred relationship Some 2
Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly. Interprets True Height / growth measure Inferred relationship Some 2
Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit. Interprets True Height / growth measure Inferred relationship Some 2
Smith Fineman Myers syndrome Interprets False Height / growth measure Inferred relationship Some 3
A rare primary bone dysplasia characterized by severe intrauterine and postnatal growth retardation and short stature in association with craniofacial dysmorphism (such as large forehead, triangular face, low-set ears, and micro-retrognathism) and osteochondrodysplastic lesions. Radiographic findings include epiphyseal maturation delay, abnormal metaphyses, a narrow thorax, small pelvis, and short and broad metacarpal bones and phalanges. There have been no further descriptions in the literature since 1996. Interprets True Height / growth measure Inferred relationship Some 4
Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait. Interprets True Height / growth measure Inferred relationship Some 5
Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterized 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 Inferred relationship Some 5
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. Interprets False Height / growth measure Inferred relationship Some 3
A rare genetic neurological disorder characterized by the association of hypomyelinating leukodystrophy with spondylometaphyseal dysplasia. Patients present in infancy with absent or delayed ability to walk independently, slowly progressive motor deterioration, spasticity, ataxia, proximal weakness, and joint contractures. Additional manifestations include mild cognitive impairment, short stature, scoliosis, enlarged and deformed joints, dysarthria, nystagmus, visual defects, and mildly dysmorphic features, among others. Mode of inheritance is X-linked recessive. Interprets True Height / growth measure Inferred relationship Some 3
A rare, genetic, multiple congenital anomalies syndrome characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck, vertebral anomalies and intellectual disability. There have been no further descriptions in the literature since 1993. Interprets True Height / growth measure Inferred relationship Some 5
Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988. Interprets False Height / growth measure Inferred relationship Some 3
An exceedingly rare, autosomal recessive immune disease characterized 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 Inferred relationship Some 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 Inferred relationship Some 3
Multiple epiphyseal dysplasia Beighton type (disorder) Interprets True Height / growth measure Inferred relationship Some 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 Inferred relationship Some 4
A rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants. Interprets True Height / growth measure Inferred relationship Some 4
A rare developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip) and, relative to other family members, short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (Kallman syndrome). There have been no further descriptions in the literature since 1986. Interprets True Height / growth measure Inferred relationship Some 3
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, feeding difficulty and failure to thrive, cardiac anomalies (septal defects and/or valve dysplasia), joint laxity, short extremities, brachydactyly, carpal and tarsal fusion, cervical vertebral fusion, inner ear malformation with bilateral conductive hearing loss, and dysmorphic facial features (such as hypertelorism, upslanting palpebral fissures, posteriorly rotated ears, anteverted nares, and long philtrum). Additional variable manifestations include gastroesophageal reflux and genitourinary anomalies, among others. Interprets False Height / growth measure Inferred relationship Some 5
A rare, genetic, primary bone dysplasia disorder characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and hypoplasia/dysplasia of the third and fourth metatarsals, in the absence of ophthalmologic, cleft palate, and height anomalies. Interprets True Height / growth measure Inferred relationship Some 2
A rare disorder of sex development affecting 46,XY individuals and characterized by complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic discs), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. Interprets True Height / growth measure Inferred relationship Some 3
A rare, genetic, primary bone dysplasia syndrome characterized by multiple epiphyseal dysplasia, severely delayed ossification (mainly of the epiphyses, pubic symphysis, hands and feet), abnormal modeling of the bones in hands and feet, abnormal pelvis cartilage persistence, and mild growth retardation. Calcium, phosphate and vitamin D serum levels are typically within normal range, while parathyroid hormone serum levels are normal to slightly elevated. Oligodontia has been rarely associated. Interprets True Height / growth measure Inferred relationship Some 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 Inferred relationship Some 3
Short stature-webbed neck-heart disease syndrome is characterized by short stature, intellectual deficit, facial dysmorphism, short, webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin siblings born to consanguineous parents. Interprets True Height / growth measure Inferred relationship Some 4
Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3), and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity. Interprets True Height / growth measure Inferred relationship Some 2
A rare malformative syndrome with dentinogenesis imperfecta, characterized by dentin dysplasia with opalescent discoloration and severe attrition of primary and permanent teeth, and delayed eruption, bulbous crowns, long and tapered roots, and progressive root canal obliteration of the permanent dentition, associated with proportionate short stature, sensorineural hearing loss, mild intellectual disability, and dysmorphic facial features. The latter include a prominent nose with high nasal bridge and short philtrum. Osteoporosis, mild platyspondyly, and cone-shaped epiphyses have also been reported. Interprets True Height / growth measure Inferred relationship Some 5
A primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develop in childhood and that progress to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing. Interprets True Height / growth measure Inferred relationship Some 4
This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature. Interprets True Height / growth measure Inferred relationship Some 4
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Interprets True Height / growth measure Inferred relationship Some 6
A rare disorder characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive. Interprets True Height / growth measure Inferred relationship Some 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 Inferred relationship Some 8
syndrome de nanisme ostéochondrodysplasique-surdité-rétinopathie pigmentaire Interprets False Height / growth measure Inferred relationship Some 5
Parastremmatic dwarfism (disorder) Interprets True Height / growth measure Inferred relationship Some 2
A rare lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). There have been no further descriptions in the literature since 1963. Interprets True Height / growth measure Inferred relationship Some 4
syndrome de dyschondrostéose - néphropathie Interprets False Height / growth measure Inferred relationship Some 4

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