721075001: Short tarsus with absence of lower eyelashes syndrome (disorder)

\Deformity (finding)\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\Congenital undergrowth of partial lower limb\Longitudinal deficiency of tarsal bone\Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.
\Deformity (finding)\Deformity of limb (finding)\Deformity of lower limb (finding)\Congenital deformity of lower limb (disorder)\Congenital deformity of foot\Longitudinal deficiency of tarsal bone\Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.
\Deformity (finding)\Deformity of limb (finding)\Deformity of lower limb (finding)\Congenital deformity of lower limb (disorder)\Congenital undergrowth of partial lower limb\Longitudinal deficiency of tarsal bone\Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.
\Deformity (finding)\Deformity of limb (finding)\Deformity of lower limb (finding)\Deformity of foot\Congenital deformity of foot\Longitudinal deficiency of tarsal bone\Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.
\Deformity (finding)\Deformity of limb (finding)\Deformity of lower limb (finding)\Deformity of foot\Deformity of bone in foot\Longitudinal deficiency of tarsal bone\Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.
\Deformity (finding)\Deformation of bone\Deformity of bone in foot\Longitudinal deficiency of tarsal bone\Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.
\Deformity (finding)\Congenital deformity\Congenital deformity of musculoskeletal system (disorder)\Longitudinal deficiency of tarsal bone\Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.
\Deformity (finding)\Congenital deformity\Congenital deformity of lower limb (disorder)\Congenital deformity of foot\Longitudinal deficiency of tarsal bone\Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.
\Deformity (finding)\Congenital deformity\Congenital deformity of lower limb (disorder)\Congenital undergrowth of partial lower limb\Longitudinal deficiency of tarsal bone\Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.
\Deformity (finding)\Congenital deformity\Longitudinal deficiency of part of limb (disorder)\Congenital undergrowth of partial lower limb\Longitudinal deficiency of tarsal bone\Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.

\Skin AND/OR mucosa finding (finding)\Skin finding\...

\Hair finding\Eyelash finding\Absence of eyelashes\Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.
\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Congenital absence of eyelash\Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.
\Hair finding\Disorder of hair\Alopecia\Congenital alopecia\Congenital absence of eyelash\Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.

\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Congenital absence of eyelash\Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.
\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Congenital absence of eyelash\Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.
\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Congenital absence of eyelash\Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.

\General finding of soft tissue\Skin finding\Hair finding\Eyelash finding\Absence of eyelashes\Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.
\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Congenital absence of eyelash\Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.
\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Alopecia\Congenital alopecia\Congenital absence of eyelash\Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Congenital absence of eyelash\Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Congenital absence of eyelash\Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Congenital absence of eyelash\Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Congenital absence of eyelash\Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Congenital absence of eyelash\Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Congenital absence of eyelash\Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.

\Eye / vision finding\Eyelid finding\Eyelash finding\Absence of eyelashes\Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.
\Eye / vision finding\Eyelid finding\Disorder of eyelid\Congenital structural abnormality of eyelid\Ablepharon\Partial ablepharon\Congenital absence of eyelash\Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\Ablepharon\Partial ablepharon\Congenital absence of eyelash\Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Ablepharon\Partial ablepharon\Congenital absence of eyelash\Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.
\Eye / vision finding\Visual system disorder (disorder)\Hereditary disorder of the visual system\Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.
\Eye / vision finding\Visual system disorder (disorder)\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\Ablepharon\Partial ablepharon\Congenital absence of eyelash\Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.
\Integumentary system finding\Disorder of integument\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Congenital absence of eyelash\Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Congenital absence of eyelash\Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Congenital absence of eyelash\Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Congenital absence of eyelash\Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.
\Integumentary system finding\Skin finding\Hair finding\Eyelash finding\Absence of eyelashes\Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Congenital absence of eyelash\Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Alopecia\Congenital alopecia\Congenital absence of eyelash\Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Congenital absence of eyelash\Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Congenital absence of eyelash\Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Congenital absence of eyelash\Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5402581010 Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402582015 Short tarsus - absence of lower eyelashes is a very rare syndrome characterised by the association of thin and short upper and lower tarsus and absence of the lower eyelashes. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3323371014 Short tarsus with absence of lower eyelashes syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3323372019 Short tarsus with absence of lower eyelashes syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3323373012 Lopes Gorlin syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

897101000172112 syndrome de Lopes-Gorlin fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

967041000172116 syndrome de tarses palpébraux courts-absence de cils inférieurs fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

529131000274110 Lopes-Gorlin-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

564851000274119 Syndrom mit kurzem Tarsus und Fehlen der unteren Augenwimpern de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.	Is a	Autosomal dominant hereditary disorder (disorder)	true	Inferred relationship	Some
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.	Is a	Longitudinal deficiency of tarsal bone	true	Inferred relationship	Some
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.	Is a	Congenital absence of eyelash	true	Inferred relationship	Some
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Some
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.	Associated morphology	Congenital absence	false	Inferred relationship	Some	2
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.	Occurrence	Congenital	true	Inferred relationship	Some	2
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.	Finding site	Entire eyelashes	false	Inferred relationship	Some	2
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.	Associated morphology	Abnormally short growth (morphologic abnormality)	false	Inferred relationship	Some	3
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.	Occurrence	Congenital	false	Inferred relationship	Some	3
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.	Finding site	Any bone that is part of the tarsus	false	Inferred relationship	Some	3
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.	Associated morphology	Abnormally short growth (morphologic abnormality)	true	Inferred relationship	Some	2
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.	Finding site	Any bone that is part of the tarsus	true	Inferred relationship	Some	2
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.	Occurrence	Congenital	true	Inferred relationship	Some	1
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.	Associated morphology	Congenital absence	false	Inferred relationship	Some	1
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.	Finding site	Entire eyelashes	true	Inferred relationship	Some	1
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.	Is a	Congenital alopecia	false	Inferred relationship	Some
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.	Is a	Partial ablepharon	false	Inferred relationship	Some
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.	Associated morphology	Absence (morphologic abnormality)	true	Inferred relationship	Some	1
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.	Is a	Absence of eyelashes	true	Inferred relationship	Some

Inbound Relationships

Characteristic

Refinability

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
5402581010	Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402582015	Short tarsus - absence of lower eyelashes is a very rare syndrome characterised by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3323371014	Short tarsus with absence of lower eyelashes syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3323372019	Short tarsus with absence of lower eyelashes syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3323373012	Lopes Gorlin syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
897101000172112	syndrome de Lopes-Gorlin	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
967041000172116	syndrome de tarses palpébraux courts-absence de cils inférieurs	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
529131000274110	Lopes-Gorlin-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
564851000274119	Syndrom mit kurzem Tarsus und Fehlen der unteren Augenwimpern	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module