720982007: 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\Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)

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

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

Descriptions:

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

5402550018 A rare constitutional hemolytic anemia that is characterized by 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

5402551019 A rare constitutional haemolytic anaemia that is characterised by 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

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

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

5402550018 A rare constitutional hemolytic anemia that is characterized by 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

5402551019 A rare constitutional haemolytic anaemia that is characterised by 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

3448061001000118 Alport-Syndrom-Intelligenzminderung-Mittelgesichtshypoplasie-Elliptozytose-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6046351000241110 syndrome d'Alport, déficience intellectuelle, hypoplasie de la moitié du visage et elliptocytose fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6046361000241113 syndrome d'Alport, déficience intellectuelle, hypoplasie de l'hémiface et elliptocytose fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6046371000241117 syndrome d'Alport, déficience intellectuelle, hypoplasie hémifaciale et elliptocytose fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6046351000241110 syndrome d'Alport, déficience intellectuelle, hypoplasie de la moitié du visage et elliptocytose fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6046361000241113 syndrome d'Alport, déficience intellectuelle, hypoplasie de l'hémiface et elliptocytose fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6046371000241117 syndrome d'Alport, déficience intellectuelle, hypoplasie hémifaciale et elliptocytose fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3448061001000118 Alport-Syndrom-Intelligenzminderung-Mittelgesichtshypoplasie-Elliptozytose-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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	Existential restriction modifier (core metadata concept)
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Is a	retard mental	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Is a	Anomaly of chromosome X	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Is a	X-linked hereditary disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Is a	Hereditary elliptocytosis	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Is a	Congenital nephritis	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Is a	Hereditary nephritis	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Finding site	Erythrocyte	false	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Finding site	Face structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Associated morphology	Deletion of long arm	false	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Finding site	Sex chromosome X (cell structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Associated morphology	inflammation chronique	false	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Finding site	Glomerulus structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Is a	Intelligenzminderung	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Finding site	Structure of auditory system (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	9
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Interprets	Hearing	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Is a	Alport syndrome (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Is a	Congenital hearing disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Is a	Congenital anomaly of the kidney	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Finding site	Face structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Associated morphology	Deletion of long arm	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Finding site	Sex chromosome X (cell structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Finding site	Glomerulus structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Associated morphology	inflammation chronique	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Interprets	Red blood cell count	true	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	9
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	8
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Finding site	Erythrocyte	true	Inferred relationship	Existential restriction modifier (core metadata concept)	9
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Associated morphology	Elliptocyte (cell)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	9
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Interprets	Haemolysis	true	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Existential restriction modifier (core metadata concept)	8
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	9
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Has interpretation	Present (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Has interpretation	Impaired (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Has interpretation	Impaired (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Associated morphology	Chronic inflammatory morphology (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships

Characteristic

Refinability

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
5402550018	A rare constitutional hemolytic anemia that is characterized by 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
5402551019	A rare constitutional haemolytic anaemia that is characterised by 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
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
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
5402550018	A rare constitutional hemolytic anemia that is characterized by 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
5402551019	A rare constitutional haemolytic anaemia that is characterised by 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
3448061001000118	Alport-Syndrom-Intelligenzminderung-Mittelgesichtshypoplasie-Elliptozytose-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6046351000241110	syndrome d'Alport, déficience intellectuelle, hypoplasie de la moitié du visage et elliptocytose	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6046361000241113	syndrome d'Alport, déficience intellectuelle, hypoplasie de l'hémiface et elliptocytose	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6046371000241117	syndrome d'Alport, déficience intellectuelle, hypoplasie hémifaciale et elliptocytose	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6046351000241110	syndrome d'Alport, déficience intellectuelle, hypoplasie de la moitié du visage et elliptocytose	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6046361000241113	syndrome d'Alport, déficience intellectuelle, hypoplasie de l'hémiface et elliptocytose	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6046371000241117	syndrome d'Alport, déficience intellectuelle, hypoplasie hémifaciale et elliptocytose	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3448061001000118	Alport-Syndrom-Intelligenzminderung-Mittelgesichtshypoplasie-Elliptozytose-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module