721223002: Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)

\Nail finding\Disorder of nail (disorder)\...

\Genetic disorder of nail (disorder)\Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)

\Developmental abnormality of nail\Congenital anomaly of nail\Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)

Descriptions:

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	9
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Is a	Congenital anomaly of face bones	true	Inferred relationship	Some
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Is a	Congenital anomaly of nail	true	Inferred relationship	Some
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Is a	Congenital aganglionic megacolon	true	Inferred relationship	Some
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Is a	Digestive system hereditary disorder (disorder)	true	Inferred relationship	Some
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Finding site	Parasympathetic nervous system structure	false	Inferred relationship	Some
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Finding site	Autonomic nerve structure	true	Inferred relationship	Some	5
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	8
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	9
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	10
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Associated morphology	Congenital hypertrophy	false	Inferred relationship	Some	10
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Finding site	Colon structure	false	Inferred relationship	Some	10
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Associated morphology	Congenital dilatation	false	Inferred relationship	Some	8
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Finding site	Colon structure	false	Inferred relationship	Some	8
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Finding site	Bone structure of face	false	Inferred relationship	Some	9
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Is a	Inherited autonomic nervous system disorder (disorder)	true	Inferred relationship	Some
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Is a	Congenital dilatation of colon	true	Inferred relationship	Some
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	11
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Associated morphology	Congenital hypoplasia	false	Inferred relationship	Some	11
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Finding site	Nail structure	false	Inferred relationship	Some	11
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	4
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Finding site	Colon structure	true	Inferred relationship	Some	4
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Finding site	Colon structure	true	Inferred relationship	Some	2
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Finding site	Bone structure of face	true	Inferred relationship	Some	1
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Associated morphology	Hypertrophy	true	Inferred relationship	Some	2
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Associated morphology	Congenital dilatation	false	Inferred relationship	Some	5
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	5
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	5
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Finding site	Large intestine part	false	Inferred relationship	Some	5
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Is a	Disorder of colon (disorder)	false	Inferred relationship	Some
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Associated morphology	Hypoplasia	true	Inferred relationship	Some	3
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Associated morphology	Dilatation	true	Inferred relationship	Some	4
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Finding site	Nail unit structure	true	Inferred relationship	Some	3
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Is a	Genetic disorder of nail (disorder)	true	Inferred relationship	Some
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	5
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Finding site	Structure of peripheral part of autonomic nervous system (body structure)	true	Inferred relationship	Some	6
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	6
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	6
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	6

Inbound Relationships

Characteristic

Refinability

This concept is not in any reference sets

Id	Description	Lang	Type	Status	Case?	Module
3324663012	Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3324664018	Hirschsprung disease with nail hypoplasia and dysmorphism	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3324665017	Al Gazali Donnai Muller syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3324666016	A fatal malformative disorder with characteristics of Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
12776131000172111	syndrome d'Al Gazali-Donnai-Muller	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
12776141000172116	syndrome de maladie de Hirschsprung, hypoplasie des ongles et dysmorphie	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4270731000172113	syndroom van Al Gazali-Donnai-Muller	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4270741000172118	ziekte van Hirschsprung met nagelhypoplasie en dysmorfie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)