237834000: Disorder of stature (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Body measurement finding\Height / growth finding (finding)\General finding of height\Disorder of stature

\Finding of general physiological development\Disorder of stature

\Disease\Developmental disorder\Disorder of stature

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

356418011 Disorder of stature en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

626618010 Disorder of stature (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

110821000077111 anomalie staturale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Disorder of stature	Is a	Developmental disorder	true	Inferred relationship	Some
Disorder of stature	Is a	Finding of general physiological development	true	Inferred relationship	Some
Disorder of stature	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Disorder of stature	Is a	General finding of height	true	Inferred relationship	Some
Disorder of stature	Interprets	Height / growth measure	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Dwarfism	Is a	False	Disorder of stature	Inferred relationship	Some
Short stature disorder	Is a	True	Disorder of stature	Inferred relationship	Some
Leprechaunism syndrome	Is a	False	Disorder of stature	Inferred relationship	Some
Macrogenitosomia praecox	Is a	False	Disorder of stature	Inferred relationship	Some
Werner syndrome	Is a	True	Disorder of stature	Inferred relationship	Some
Gigantism	Is a	True	Disorder of stature	Inferred relationship	Some
Disorders with tall stature	Is a	False	Disorder of stature	Inferred relationship	Some
Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989.	Is a	True	Disorder of stature	Inferred relationship	Some
A rare multiple congenital anomalies syndrome characterized by tall stature due to postnatal overgrowth, mild to moderate intellectual disability, joint hypermobility and subtle distinctive facial features, which often become apparent during adolescence (such as round face, low-set, thick horizontal eyebrows, narrow palpebral fissures and prominent upper-central incisors). Overweight, hypotonia, behavioral and psychiatric problems are common. Other clinical features may involve seizures, cryptorchidism and cardiovascular diseases (including congenital heart disease and aortic root dilatation).	Is a	True	Disorder of stature	Inferred relationship	Some
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).	Is a	True	Disorder of stature	Inferred relationship	Some
A rare overgrowth syndrome associated with multiple congenital anomalies characterized by tall stature, large hands and feet with large thumbs and halluces, spatulate digits, developmental delay and facial dysmorphism.	Is a	True	Disorder of stature	Inferred relationship	Some
A rare overgrowth syndrome with skeletal involvement characterized by long and slim body habitus and multiple skeletal manifestations, such as scoliosis, macrodactyly of the big toes, arachnodactyly of fingers and toes, camptodactyly and clinodactyly, and progressive valgus deformities of the feet. Epimetaphyseal dysplasia, bowing of the tibiae, and dysmorphic facial features (hypertelorism, high palate, or micrognathia), as well as aortic root dilatation and umbilical hernia have also been reported.	Is a	True	Disorder of stature	Inferred relationship	Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay with mild intellectual disability, short stature, facial dysmorphism (such as sparse hair, high forehead, deep-set eyes, short and upslanting palpebral fissures, short nose, anteverted nares, wide nasal base with broad nasal tip and broad columella, long philtrum, thin upper lip, and low-set, posteriorly rotated ears), and variable onset of sensorineural hearing loss and retinitis pigmentosa. Additional features are other ocular anomalies, abnormalities of the fingers, hypothyroidism, and signs of premature aging. Brain imaging shows cerebellar atrophy and dysmyelination.	Is a	True	Disorder of stature	Inferred relationship	Some

Reference Sets

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