Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Congenital knee joint deformity NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Other congenital anomalies of toe |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Brachyphalangia of other toes |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Other toe anomalies NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital anomalies of foot NEC |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Anomalies of foot NEC NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Brachymetapodia of other metatarsal |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Other congenital anomalies of lower leg |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Other congenital anomalies of upper leg |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Other congenital anomalies of pelvis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital absence of pubis NEC |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Other congenital anomalies of pelvis NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Other lower limb anomalies |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Other lower limb and pelvic girdle anomaly NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Other specified anomalies of unspecified limb |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Arthrogryposis, unspecified |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Other arthrogryposis syndromes |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Other anomaly of unspecified limb NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital anomaly of unspecified limb NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Other congenital musculoskeletal anomalies |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Other anomaly of skull or face bone NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Anomaly of spine, unspecified |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital absence of vertebra NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Hemivertebra NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Klippel-Feil syndrome NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital anomalies of cervical vertebrae NEC |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital anomaly of cervical vertebrae NEC NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital anomalies of thoracic vertebrae NEC |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital anomaly of thoracic vertebrae NEC NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital anomalies of lumbar vertebrae NEC |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital anomaly of lumbar vertebra NEC NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital sacrococcygeal anomalies NEC |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital sacrococcygeal anomaly NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital absence of spine NEC |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Other anomaly of spine NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Anomalies of spine NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Other rib and sternum anomalies |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Other congenital anomalies of ribs |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Other congenital anomalies of sternum |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Chondrodysplasia, unspecified |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Dyschondroplasia NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Other specified dwarfing syndromes |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Other dwarfing syndromes NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Other lethal retarded ossification syndromes |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Chondrodysplasia NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Osteodysplasia, unspecified |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Osteogenesis imperfecta NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Multiple epiphyseal dysplasia NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
13q12.3 microdeletion syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
13q12.3 microdeletion syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
13q12.3 microdeletion syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Other osteodysplasia NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Other specified anomalies of diaphragm |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Diaphragm anomalies NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Other specified anomaly of abdominal wall |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
14q24.1q24.3 microdeletion syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
14q24.1q24.3 microdeletion syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Abdominal wall anomaly NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
14q24.1q24.3 microdeletion syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Other specified muscle, tendon and fascia anomaly |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Other anomaly of tendon, fascia or muscle NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Other muscle, tendon or fascia anomalies NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Unspecified anomaly of muscle |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Unspecified anomaly of tendon |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Unspecified anomaly of bones |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Unspecified anomaly of cartilage |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Unspecified anomaly of connective tissue |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Epidermolysis bullosa simplex due to exophilin 5 deficiency |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital ichthyosis, unspecified |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Other specified ichthyosis congenita |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Epidermolysis bullosa simplex due to BP230 deficiency |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Dermatoglyphic anomalies NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Other specified skin anomalies |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Birth mark, unspecified |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Vascular hamartoma NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital pigmentary skin anomaly NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital alopecia, unspecified |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital alopecia NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Specified hair anomalies NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Specified nail anomalies NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Specified breast anomalies NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Other specified integument anomaly |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Unspecified congenital anomalies of hair |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Other deletions of part of a chromosome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Other deletion of part of a chromosome NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Deletions with other complex rearrangements |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|