237837007: Primordial dwarfism (disorder)

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

\Body measurement finding\Height / growth finding (finding)\General finding of height\Disorder of stature\Short stature disorder\Primordial dwarfism

\Finding of general physiological development\Disorder of stature\Short stature disorder\Primordial dwarfism

\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Primordial dwarfism

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

356425016 Primordial dwarfism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

626621012 Primordial dwarfism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2770440014 Pure dwarf en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2770441013 Pure dwarfism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2770442018 True dwarf en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2771034017 Normal dwarf en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2771035016 Normal dwarfism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2771791015 True dwarfism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2772412012 Nanosomia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

362241000195111 nanismo primordiale it Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

640271000172112 nanisme primordial fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

11601001000111 Primordialer Kleinwuchs de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Primordial dwarfism	Is a	Short stature disorder	true	Inferred relationship	Some
Primordial dwarfism	Is a	Dwarfism	false	Inferred relationship	Some
Primordial dwarfism	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Primordial dwarfism	Interprets	Height / growth measure	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency	Is a	True	Primordial dwarfism	Inferred relationship	Some
Russell-Silver syndrome	Is a	True	Primordial dwarfism	Inferred relationship	Some
Seckel syndrome	Is a	True	Primordial dwarfism	Inferred relationship	Some
Ear, patella, short stature syndrome (disorder)	Is a	True	Primordial dwarfism	Inferred relationship	Some
A rare disorder characterized by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive.	Is a	True	Primordial dwarfism	Inferred relationship	Some
Osteodysplastic primordial dwarfism	Is a	True	Primordial dwarfism	Inferred relationship	Some
Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur.	Is a	True	Primordial dwarfism	Inferred relationship	Some
A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970.	Is a	True	Primordial dwarfism	Inferred relationship	Some
A rare form of primordial dwarfism, often microcephalic, characterized by short stature, global developmental delay, variable intellectual disability and recognizable dysmorphic facial features (triangular face, prominent forehead, deeply set eyes, low-set ears, wide nose, malar hypoplasia, wide mouth, thick lips, and widely spaced teeth).	Is a	True	Primordial dwarfism	Inferred relationship	Some
Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intellectual disability, severe adult short stature and facial dysmorphism (including hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated.	Is a	True	Primordial dwarfism	Inferred relationship	Some
A rare, genetic, neurodevelopmental disorder with primordial microcephaly characterized by primary microcephaly, moderate to severe intellectual disability, and global developmental delay. Variable brain malformations are common ranging from simplified gyration, to cortical malformations such as pachygyria, polymicrogyria, reduced sulcation and midline defects. Craniofacial dysmorphism (e.g. sloping forehead, high and broad nasal bridge) are related to the primary microcephaly. Short stature is frequently observed and may be severe.	Is a	True	Primordial dwarfism	Inferred relationship	Some
A rare genetic disease characterized by severe pre- and postnatal growth failure with short stature and microcephaly, facial dysmorphism (including a small jaw and prominent midface), severe insulin resistance, fatty liver, and hypertriglyceridemia developing in childhood, and primary gonadal failure. Mild global learning difficulties and acanthosis nigricans have also been reported.	Is a	True	Primordial dwarfism	Inferred relationship	Some
A rare autosomal recessive microcephalic primordial dwarfism characterized by congenital microcephaly and craniofacial features associated with a spectrum of limb abnormalities ranging from mild to severe. Short stature is frequently observed and often is severe.	Is a	True	Primordial dwarfism	Inferred relationship	Some

This concept is not in any reference sets