715522000: phocomélie type Schinzel (trouble)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Partial congenital absence of limb\Phocomelia\Phocomelia Schinzel type (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of pelvis\Congenital anomaly of the pelvis (disorder)\Phocomelia Schinzel type (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis (disorder)\Phocomelia Schinzel type (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Finding of pelvis (finding)\Disorder of pelvis\Congenital anomaly of the pelvis (disorder)\Phocomelia Schinzel type (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Disorder of pelvic region of trunk (disorder)\Disorder of pelvis\Congenital anomaly of the pelvis (disorder)\Phocomelia Schinzel type (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of pelvis\Congenital anomaly of the pelvis (disorder)\Phocomelia Schinzel type (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis (disorder)\Phocomelia Schinzel type (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis (disorder)\Phocomelia Schinzel type (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Phocomelia Schinzel type (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Phocomelia Schinzel type (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Partial congenital absence of limb\Phocomelia\Phocomelia Schinzel type (disorder)
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of pelvis\Congenital anomaly of the pelvis (disorder)\Phocomelia Schinzel type (disorder)
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis (disorder)\Phocomelia Schinzel type (disorder)
• \Disease\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis (disorder)\Phocomelia Schinzel type (disorder)
• \Disease\Congenital disease\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis (disorder)\Phocomelia Schinzel type (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis (disorder)\Phocomelia Schinzel type (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Phocomelia\Phocomelia Schinzel type (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Phocomelia Schinzel type (disorder)
• \Disease\trouble du développement\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis (disorder)\Phocomelia Schinzel type (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis (disorder)\Phocomelia Schinzel type (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Phocomelia\Phocomelia Schinzel type (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3302904013	Phocomelia Schinzel type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3302905014	Phocomelia Schinzel type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3302906010	Al Awadi-Raas-Rothschild syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3302907018	Schinzel phocomelia syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
747741000241110	phocomélie type Schinzel (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
975201000172113	absence congénitale de cubitus et de péroné	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
985631000172113	phocomélie type Schinzel	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3302908011	Skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. Only a few cases have been described. Patients have intercalary limb deficiencies (phocomelia sometimes combined with polydactyly, oligodactyly or ectrodactyly), absent or hypoplastic pelvic bones (including sacral agenesis or hypoplasia) and skull defects. Additional features may include thoracic dystrophy, unusual facies (dysplastic and large ears, and a high and narrow palate), and genital malformations.Growth and mental development are normal.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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