ORPHA:1671

Split cord malformation type I

Synonyms: Diastematomyelia · SCM type 1 · SCM type I · Split cord malformation type 1

A rare subtype of split cord malformation characterized by each hemicord contained in its own dural sac, typically with a intervening bony septum.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Split cord malformation type I	Diastematomyelia · SCM type 1 · SCM type I · Split cord malformation type 1
fr	Moelle épinière dédoublée type I	Diastématomyélie · Moelle épinière dédoublée type 1 · SCM type 1 · SCM type I
de	Split-Cord-Malformation Typ I	Diastematomyelie · SCM Typ 1 · SCM Typ I
es	Malformación de médula espinal hendida tipo I	Malformación de médula espinal hendida tipo 1 · SCM tipo 1 · SCM tipo I
it	Malformazione da fissurazione longitudinale del midollo spinale tipo I
nl	Gespleten ruggenmerg-malformatie type I	Gespleten ruggenmerg-malformatie type 1 · SCM type 1 · SCM type I
pt	Malformação do cordão dividido tipo I
pl	Rozdwojenie rdzenia kręgowego typu 1	= en
cs	Diastematomyelie, typ 1	= en
uk	Розщеплення пуповини, тип I	Діастематомієлія · SCM тип 1 · SCM тип I · Розщеплення пуповини, тип 1
zh	脊髓分裂畸形1型	脊髓分裂畸形1型
tr	Ayrık omurilik malformasyonu tip I	SCM tipi 1 · SCM tip I · Ayrık kordon malformasyonu tip 1

Definition in:

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	222500	E		validated
ICD-10	Q06.2	E	specific	validated
ICD-11	LA07.1	NTBT	attributed	validated
MONDO	0009106	E		validated
UMLS	C5566552	E		validated
GARD	1851	E		validated
MedDRA	10012750	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

ORPHA:573278Split cord malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases

No children.

0 direct

Orphanet records no gene directly on this code.

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	Unknown	—	Worldwide	Class only	Validated	ORPHANET_22371545[PMID]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

3 annotations · validated 2016-06-01

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0100563	Diastomatomyelia
Frequent (79-30%)
HP:0002230	Generalized hirsutism
HP:0002650	Scoliosis