765755006: Axial mesodermal dysplasia spectrum (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Axial mesodermal dysplasia spectrum
• \Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Axial mesodermal dysplasia spectrum

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3659587014	Russell Weaver Bull syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3659589012	Axial mesodermal dysplasia spectrum (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3659590015	Axial mesodermal dysplasia spectrum	en	Synonym	Active	Case insensitive	SNOMED CT core
3659591016	Blastogenesis defect	en	Synonym	Active	Case insensitive	SNOMED CT core
3659588016	A rare developmental defect during embryogenesis syndrome with characteristics of congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (including asymmetry, hypertelorism), auricular abnormalities (for example preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agenesis/dysplasia, abnormal external genitalia) along with anal anomalies such as anal atresia and rectovesical fistula.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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