715991005: Crane Heise syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Crane Heise syndrome (disorder)
\Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Disorder of vertebral column (disorder)\Crane Heise syndrome (disorder)
\Finding of back (finding)\Finding of spinal region\Vertebral column finding\Disorder of vertebral column (disorder)\Crane Heise syndrome (disorder)
\Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Crane Heise syndrome (disorder)
\Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Disorder of vertebral column (disorder)\Crane Heise syndrome (disorder)
\Finding of back (finding)\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Crane Heise syndrome (disorder)

\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of shoulder region (disorder)\Congenital anomaly of bone of shoulder girdle (disorder)\Crane Heise syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of bone of shoulder girdle (disorder)\Crane Heise syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\Crane Heise syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of bone of shoulder girdle (disorder)\Crane Heise syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\Crane Heise syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of part of upper limb\Crane Heise syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Absence of upper limb (finding)\Congenital absence of upper limb\Congenital absence of part of upper limb\Crane Heise syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Absence of upper limb (finding)\Absence of bone in arm\Absence of clavicle\Crane Heise syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Finding of bone of upper limb\Congenital anomaly of bone of shoulder girdle (disorder)\Crane Heise syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Finding of bone of upper limb\Finding of clavicle structure\Absence of clavicle\Crane Heise syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Finding of bone of upper limb\Absence of bone in arm\Absence of clavicle\Crane Heise syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of shoulder region (disorder)\Congenital anomaly of bone of shoulder girdle (disorder)\Crane Heise syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of bone of shoulder girdle (disorder)\Crane Heise syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\Crane Heise syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Finding of shoulder region\Finding of clavicle structure\Absence of clavicle\Crane Heise syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Finding of shoulder region\Disorder of shoulder region (disorder)\Congenital anomaly of bone of shoulder girdle (disorder)\Crane Heise syndrome (disorder)

\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Crane Heise syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Crane Heise syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Finding of clavicle structure\Absence of clavicle\Crane Heise syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Congenital anomaly of thorax\Crane Heise syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Crane Heise syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Crane Heise syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Crane Heise syndrome (disorder)

\Finding of head and neck region\Head finding (finding)\...

\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Crane Heise syndrome (disorder)

\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Crane Heise syndrome (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Crane Heise syndrome (disorder)

\Musculoskeletal finding\Vertebral column finding\Disorder of vertebral column (disorder)\Crane Heise syndrome (disorder)
\Musculoskeletal finding\Bone finding\Finding of bone of upper limb\Congenital anomaly of bone of shoulder girdle (disorder)\Crane Heise syndrome (disorder)
\Musculoskeletal finding\Bone finding\Finding of bone of upper limb\Finding of clavicle structure\Absence of clavicle\Crane Heise syndrome (disorder)
\Musculoskeletal finding\Bone finding\Finding of bone of upper limb\Absence of bone in arm\Absence of clavicle\Crane Heise syndrome (disorder)
\Musculoskeletal finding\Bone finding\Bone absent (finding)\Absence of bone in arm\Absence of clavicle\Crane Heise syndrome (disorder)
\Musculoskeletal finding\Bone finding\Bone absent (finding)\Congenital absence of skeletal bone\Crane Heise syndrome (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of bone of shoulder girdle (disorder)\Crane Heise syndrome (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Crane Heise syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of vertebral column (disorder)\Crane Heise syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of bone of shoulder girdle (disorder)\Crane Heise syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Crane Heise syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone of shoulder girdle (disorder)\Crane Heise syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Crane Heise syndrome (disorder)

\Disease\Disorder of joint region\Disorder of shoulder region (disorder)\Congenital anomaly of bone of shoulder girdle (disorder)\Crane Heise syndrome (disorder)
\Disease\Disorder of body wall (disorder)\Congenital anomaly of body wall\Crane Heise syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of vertebral column (disorder)\Crane Heise syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of bone of shoulder girdle (disorder)\Crane Heise syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Crane Heise syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone of shoulder girdle (disorder)\Crane Heise syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Crane Heise syndrome (disorder)
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of shoulder region (disorder)\Congenital anomaly of bone of shoulder girdle (disorder)\Crane Heise syndrome (disorder)
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of bone of shoulder girdle (disorder)\Crane Heise syndrome (disorder)
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\Crane Heise syndrome (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of bone of shoulder girdle (disorder)\Crane Heise syndrome (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\Crane Heise syndrome (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of part of upper limb\Crane Heise syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Crane Heise syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Crane Heise syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Crane Heise syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Crane Heise syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Crane Heise syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Crane Heise syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of body wall\Crane Heise syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Crane Heise syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Crane Heise syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Crane Heise syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone of shoulder girdle (disorder)\Crane Heise syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Crane Heise syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of bone of shoulder girdle (disorder)\Crane Heise syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\Crane Heise syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of part of upper limb\Crane Heise syndrome (disorder)
\Disease\Disorder of back\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Crane Heise syndrome (disorder)
\Disease\Disorder of back\Disorder of spinal region (disorder)\Disorder of vertebral column (disorder)\Crane Heise syndrome (disorder)
\Disease\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Crane Heise syndrome (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of bone of shoulder girdle (disorder)\Crane Heise syndrome (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Crane Heise syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Crane Heise syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of body wall\Crane Heise syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Crane Heise syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Crane Heise syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Crane Heise syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone of shoulder girdle (disorder)\Crane Heise syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Crane Heise syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of bone of shoulder girdle (disorder)\Crane Heise syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\Crane Heise syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of part of upper limb\Crane Heise syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3304348011 Crane Heise syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3304349015 Crane Heise syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3304354012 A very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. Nine cases have been reported in the literature so far. Dysmorphic features include micrognathia, cleft palate, hypertelorism and upturned nares. Clavicular aplasia is constant and agenesis of cervical vertebral bodies is frequent. Intra uterine growth retardation is constant. It is most likely that the condition is hereditary, transmitted as an autosomal recessive trait. Prognosis is poor, the syndrome is almost always lethal soon after birth. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3304355013 A very rare syndrome characterised by poorly mineralised calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. Nine cases have been reported in the literature so far. Dysmorphic features include micrognathia, cleft palate, hypertelorism and upturned nares. Clavicular aplasia is constant and agenesis of cervical vertebral bodies is frequent. Intra uterine growth retardation is constant. It is most likely that the condition is hereditary, transmitted as an autosomal recessive trait. Prognosis is poor, the syndrome is almost always lethal soon after birth. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3873571000052112 Crane-Heises syndrom sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Crane Heise syndrome (disorder)	Is a	Congenital anomaly of skeletal bone	false	Inferred relationship	Some
Crane Heise syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Crane Heise syndrome (disorder)	Is a	Congenital anomaly of spine	true	Inferred relationship	Some
Crane Heise syndrome (disorder)	Is a	Absence of clavicle	true	Inferred relationship	Some
Crane Heise syndrome (disorder)	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	3
Crane Heise syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Crane Heise syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	3
Crane Heise syndrome (disorder)	Associated morphology	Aplasia	false	Inferred relationship	Some	4
Crane Heise syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	4
Crane Heise syndrome (disorder)	Finding site	Bone structure of clavicle	false	Inferred relationship	Some	4
Crane Heise syndrome (disorder)	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	5
Crane Heise syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	5
Crane Heise syndrome (disorder)	Finding site	Structure of vertebral column (body structure)	false	Inferred relationship	Some	5
Crane Heise syndrome (disorder)	Is a	Congenital anomaly of bone of shoulder girdle (disorder)	true	Inferred relationship	Some
Crane Heise syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Crane Heise syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Crane Heise syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Crane Heise syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	3
Crane Heise syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Crane Heise syndrome (disorder)	Finding site	Structure of vertebral column (body structure)	true	Inferred relationship	Some	1
Crane Heise syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Crane Heise syndrome (disorder)	Finding site	Bone structure of clavicle	true	Inferred relationship	Some	2
Crane Heise syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Crane Heise syndrome (disorder)	Associated morphology	Aplasia	true	Inferred relationship	Some	2
Crane Heise syndrome (disorder)	Is a	Disorder of vertebral column (disorder)	true	Inferred relationship	Some
Crane Heise syndrome (disorder)	Is a	Congenital absence of part of upper limb	true	Inferred relationship	Some
Crane Heise syndrome (disorder)	Is a	Congenital absence of skeletal bone	true	Inferred relationship	Some
Crane Heise syndrome (disorder)	Is a	Congenital anomaly of body wall	true	Inferred relationship	Some
Crane Heise syndrome (disorder)	Is a	Congenital anomaly of thorax	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3304348011	Crane Heise syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3304349015	Crane Heise syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3304354012	A very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. Nine cases have been reported in the literature so far. Dysmorphic features include micrognathia, cleft palate, hypertelorism and upturned nares. Clavicular aplasia is constant and agenesis of cervical vertebral bodies is frequent. Intra uterine growth retardation is constant. It is most likely that the condition is hereditary, transmitted as an autosomal recessive trait. Prognosis is poor, the syndrome is almost always lethal soon after birth.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3304355013	A very rare syndrome characterised by poorly mineralised calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. Nine cases have been reported in the literature so far. Dysmorphic features include micrognathia, cleft palate, hypertelorism and upturned nares. Clavicular aplasia is constant and agenesis of cervical vertebral bodies is frequent. Intra uterine growth retardation is constant. It is most likely that the condition is hereditary, transmitted as an autosomal recessive trait. Prognosis is poor, the syndrome is almost always lethal soon after birth.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3873571000052112	Crane-Heises syndrom	sv	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)