720982007: Alport-syndroom met verstandelijke beperking, hypoplasie van middengezicht en elliptocytose (aandoening)

\Congenital anemia\Congenital hemolytic anemia\Hereditary elliptocytosis\Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)

\Hereditary hemolytic anemia\Hereditary elliptocytosis\Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)

\Congenital anemia\Congenital hemolytic anemia\Hereditary elliptocytosis\Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)

\Hereditary hemolytic anemia\Hereditary elliptocytosis\Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)

\Viscus structure finding (finding)\Abdominal organ finding\Kidney finding\Kidney disease\...

\Hereditary nephropathy (disorder)\Hereditary nephritis (disorder)\Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)

\Congenital nephropathy (disorder)\Congenital nephritis\Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)
\Congenital nephropathy (disorder)\Congenital anomaly of the kidney\Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)

\Disorder of renal parenchyma (disorder)\Glomerular disease\Glomerulonephritis\Hereditary nephritis (disorder)\Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)
\Disorder of renal parenchyma (disorder)\Nephritis\Congenital nephritis\Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)
\Disorder of renal parenchyma (disorder)\Nephritis\Glomerulonephritis\Hereditary nephritis (disorder)\Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)

Descriptions:

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Is a	mentale retardatie	false	Inferred relationship	Some
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Is a	Anomaly of chromosome X	true	Inferred relationship	Some
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Is a	X-linked hereditary disease	true	Inferred relationship	Some
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Is a	Hereditary elliptocytosis	true	Inferred relationship	Some
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Is a	Congenital nephritis	true	Inferred relationship	Some
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Is a	Hereditary nephritis (disorder)	true	Inferred relationship	Some
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Finding site	Erythrocyte	false	Inferred relationship	Some	6
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	4
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	4
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Finding site	Face structure	false	Inferred relationship	Some	4
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	5
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	6
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Associated morphology	Deletion of long arm	false	Inferred relationship	Some	5
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Finding site	Sex chromosome X	false	Inferred relationship	Some	5
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Associated morphology	chronische ontsteking (afwijkende morfologie)	false	Inferred relationship	Some	6
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Finding site	Glomerulus structure	false	Inferred relationship	Some	6
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Finding site	Structure of auditory system (body structure)	false	Inferred relationship	Some	9
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Interprets	Hearing	false	Inferred relationship	Some	1
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Is a	Alport syndrome (disorder)	false	Inferred relationship	Some
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Is a	Congenital hearing disorder	false	Inferred relationship	Some
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Is a	Congenital anomaly of the kidney	true	Inferred relationship	Some
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	3
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	3
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Associated morphology	Deletion of long arm	true	Inferred relationship	Some	2
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Finding site	Sex chromosome X	true	Inferred relationship	Some	2
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Finding site	Glomerulus structure	true	Inferred relationship	Some	1
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Associated morphology	chronische ontsteking (afwijkende morfologie)	false	Inferred relationship	Some	1
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Interprets	Red blood cell count	true	Inferred relationship	Some	7
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	9
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	8
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Finding site	Erythrocyte	true	Inferred relationship	Some	9
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Associated morphology	Elliptocyte	true	Inferred relationship	Some	9
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Interprets	Hemolysis (observable entity)	true	Inferred relationship	Some	6
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	8
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	9
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Has interpretation	Present	true	Inferred relationship	Some	6
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	7
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	4
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	4
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	5
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	5
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Associated morphology	Chronic inflammatory morphology (morphologic abnormality)	true	Inferred relationship	Some	1
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Is a	Congenital hearing loss (disorder)	false	Inferred relationship	Some

Inbound Relationships

Characteristic

Refinability

This concept is not in any reference sets

Id	Description	Lang	Type	Status	Case?	Module
3322764012	Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3322765013	Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3322771019	AMME complex	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3322772014	AMME syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6906501000146118	AMME-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6906511000146116	ATS-MR	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6906521000146114	AMME-complex	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7796091000146112	syndroom van Alport met mentale retardatie, hypoplasie van middengezicht en elliptocytose	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7803501000146118	syndroom van Alport met verstandelijke handicap, hypoplasie van middengezicht en elliptocytose	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10659361000146119	Alport-syndroom met verstandelijke beperking, hypoplasie van middengezicht en elliptocytose	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10659371000146113	Alport-syndroom met verstandelijke beperking, hypoplasie van middengezicht en elliptocytose (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3322773016	This syndrome has characteristics of the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including COL4A5, FACL4 and AMMECR1.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core