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248295007: Physique type (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
370672019 Physique type en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
370673012 Physique en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
638579015 Physique type (observable entity) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1224088018 Build - physique en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
7282321000241119 type de physique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

2 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Physique type Is a Body form true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Cachexia Interprets False Physique type Inferred relationship Some
Physique compared to parents Interprets False Physique type Inferred relationship Some
Physique compared to usual Interprets False Physique type Inferred relationship Some
Marfanoid physique Interprets True Physique type Inferred relationship Some 1
Achondroplastic physique Interprets False Physique type Inferred relationship Some
Obese build Interprets True Physique type Inferred relationship Some 1
Cardiac cachexia Interprets False Physique type Inferred relationship Some
Physique normal Interprets True Physique type Inferred relationship Some 1
Thin build Interprets False Physique type Inferred relationship Some
à l'examen : mésomorphe Associated finding False Physique type Inferred relationship Some
Physique finding Interprets True Physique type Inferred relationship Some 1
Abnormally thin (finding) Interprets False Physique type Inferred relationship Some
Physique compared to parents Is a True Physique type Inferred relationship Some
Physique compared to usual Is a True Physique type Inferred relationship Some
On examination - bodily configuration Interprets False Physique type Inferred relationship Some 1
à l'examen : endomorphe Interprets False Physique type Inferred relationship Some 3
à l'examen : mésomorphe Interprets False Physique type Inferred relationship Some 1
à l'examen : ectomorphe Interprets False Physique type Inferred relationship Some
On examination - bodily configuration NOS Interprets False Physique type Inferred relationship Some
A rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability. Interprets True Physique type Inferred relationship Some 4
A rare syndromic intestinal malformation characterized by the association of marfanoid features (including marfanoid habitus, severe myopia, retinal detachment, and mitral valve prolapse) with visceral diverticula (inguinal and/or femoral hernia and diverticula of the large and small bowel or urinary bladder). Some patients also had diaphragmatic eventration. There have been no further descriptions in the literature since 1996. Interprets True Physique type Inferred relationship Some 2
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, psychomotor retardation, flat face and some features resembling Marfan syndrome, such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, and muscle hypotonia. There have been no further descriptions in the literature since 1984. Interprets True Physique type Inferred relationship Some 2
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. Interprets True Physique type Inferred relationship Some 3
Thin build Interprets True Physique type Inferred relationship Some 1
à l'examen : ectomorphe Interprets False Physique type Inferred relationship Some 1
Abnormally thin (finding) Interprets True Physique type Inferred relationship Some 1
Mild thinness in adulthood (finding) Interprets True Physique type Inferred relationship Some 1
Moderate thinness in adulthood (finding) Interprets True Physique type Inferred relationship Some 1
Severe thinness in adulthood (finding) Interprets True Physique type Inferred relationship Some 1
Thin build in adult (finding) Interprets True Physique type Inferred relationship Some 3
Painful orbital and systemic neurofibromas-marfanoid habitus syndrome is a rare, benign, peripheral nerve sheath tumor disorder characterized by multiple, painful, mucin-rich plexiform neurofibromas located in the orbits, cranium, large spinal nerves and mucosa, associated with a marfanoid habitus, enlarged corneal nerves, congenital neuronal migration anomalies and facial dysmorphism which includes ptosis, proptosis, prominent nose, full lips, gingival hyperplasia, and multiple subcutaneous and submucosal nodules in the lips and sublingual zone. Interprets True Physique type Inferred relationship Some 2
A rare developmental defect with connective tissue involvement disorder characterized by tall stature, inguinal hernia, facial dysmorphism (including a long, triangular face, prominent forehead, telecanthus, downslanting palpebral fissures, bilateral ptosis, everted lower eyelids, large ears, long nose, full, everted vermilions, narrow and high arched palate, dental crowding), and radiologic evidence of advanced bone age. Additional manifestations include hyperextensible joints, long digits, mild muscle weakness, myopia, and foot deformities (i.e. hallux valgus, talipes equinovarus). Interprets True Physique type Inferred relationship Some 5
Mesomorph Interprets True Physique type Inferred relationship Some 1
Endomorph Interprets True Physique type Inferred relationship Some 1
X-linked intellectual disability with marfanoid habitus (disorder) Interprets True Physique type Inferred relationship Some 2
Ectomorph (finding) Interprets True Physique type Inferred relationship Some 1
Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome Interprets True Physique type Inferred relationship Some 4

Reference Sets

Description inactivation indicator reference set

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